Expanded phenotypic spectrum of JAG1-associated diseases: Central conducting lymphatic anomaly with a pathogenic variant in JAG1.
PMID: 33433009 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - January 12, 2021 Category: Genetics & Stem Cells Authors: Li D, Sheppard SE, Peroutka C, Barnes C, Reid JR, Smith CL, Dori Y, Hakonarson H Tags: Clin Genet Source Type: research

Achalasia as a symptom guide in MIRAGE syndrome: A novel case with p.R1293Q and p.R902W variants in the SAMD9 gene.
iacute;a-Romero R PMID: 33427306 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - January 11, 2021 Category: Genetics & Stem Cells Authors: Baquedano-Lobera I, Romero-Salas Y, Ros-Arnal I, Miramar-Gallart MD, López-Pisón J, Corona-Bellostas C, García-Romero R Tags: Clin Genet Source Type: research

Novel mutations in ZP1: expanding the mutational spectrum associated with empty follicle syndrome in infertile women.
This article is protected by copyright. All rights reserved. PMID: 33423275 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - January 10, 2021 Category: Genetics & Stem Cells Authors: Wu L, Li M, Yin M, Ou Y, Yan Z, Kuang Y, Yan Z, Li B Tags: Clin Genet Source Type: research

A Brazilian case arising from a homozygous canonical splice site SLC35A3 variant leading in-frame deletion.
PMID: 33416188 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - January 8, 2021 Category: Genetics & Stem Cells Authors: Miyake N, de Oliveira Stephan B, Kim CA, Matsumoto N Tags: Clin Genet Source Type: research

Clinical and neuroimaging findings in 33 patients with MCAP syndrome: a survey to evaluate relevant endpoints for future clinical trials.
CONCLUSION: This study confirms the main known clinical features that defines MCAP syndrome. Taking into account the phenotypic heterogeneity in MCAP patients, in the context of emerging clinical trials, we suggest that patients should be evaluated based on the main neurocognitive expression on each patient. This article is protected by copyright. All rights reserved. PMID: 33415748 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - January 7, 2021 Category: Genetics & Stem Cells Authors: Garde A, Guibaud L, Goldenberg A, Petit F, Dard R, Roume J, Mazereeuw-Hautier J, Chassaing N, Lacombe D, Morice-Picard F, Toutain A, Arpin S, Boccara O, Touraine R, Blanchet P, Coubes C, Willems M, Pinson L, Khau Van Kien P, Chiaverini C, Giuliano F, Ales Tags: Clin Genet Source Type: research

Congenital cervical spine malformation due to bi-allelic RIPPLY2 variants in spondylocostal dysostosis type 6.
This article is protected by copyright. All rights reserved. PMID: 33410135 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - January 7, 2021 Category: Genetics & Stem Cells Authors: Wegler M, Roth C, Schumann E, Kogan J, Totten E, Guillen Sacoto MJ, Jamra RA, Hornemann F Tags: Clin Genet Source Type: research

PLACK Syndrome is Potentially Treatable with Intralipids.
We describe an 11-year-old girl with PLACK Syndrome (peeling skin, leukonychia, acral punctate keratosis, cheilitis, and knuckle pads), who was found to have a novel homozygous variant in CAST, the pathogenicity of which was confirmed using blood-derived RNA. There is no established treatment for PLACK syndrome. However, we demonstrate for the first time that this condition is associated with low levels of vitamin A and essential fatty acids, which prompted us to consider a potential treatment strategy. Indeed, we initiated this patient on intravenous lipid infusion (Vitalipid ®; an emulsion of fat-soluble vitamins and...
Source: Clinical Genetics - January 7, 2021 Category: Genetics & Stem Cells Authors: Sawan ZA, Almehaidib A, Binamer Y, Monies D, Alsaleem KA, Aldekhail W, Alkuraya FS, Abanemai M Tags: Clin Genet Source Type: research

Biallelic deletion in a minimal CAPN15 intron in siblings with a recognizable syndrome of congenital malformations and developmental delay.
PMID: 33410501 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - January 7, 2021 Category: Genetics & Stem Cells Authors: Mor-Shaked H, Salah S, Yanovsky-Dagan S, Meiner V, Atawneh OM, Abu-Libdeh B, Elpeleg O, Harel T Tags: Clin Genet Source Type: research

Clinical characterization of novel HSPA9 splice variant in a Chinese woman.
PMID: 33398880 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - January 5, 2021 Category: Genetics & Stem Cells Authors: Li S, Zheng X, Wang T, Xue J Tags: Clin Genet Source Type: research

Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2.
We describe 17 additional individuals with ΔSAS, review the phenotype of 33 previously published individuals with 2q33.1 deletions (n=50, mean age=8.5±7.8 years), and provide a comprehensive comparison to individuals with other molecular mechanisms that result in SAS (non-ΔSAS). Individuals in the ΔSAS group were often underweight for age (20/41=49%) with a progressive decline in weight (95% CI=-2.3 to -1.1, p
Source: Clinical Genetics - December 31, 2020 Category: Genetics & Stem Cells Authors: Zarate YA, Bosanko KA, Thomas MA, Miller DT, Cusmano-Ozog K, Martinez-Monseny A, Curry CJ, Graham JM, Velsher L, Bekheirnia MR, Seidel V, Dedousis D, Mitchell AL, DiMarino AM, Riess A, Balasubramanian M, Fish JL, Caffrey AR, Fleischer N, Pierson TM, Lacro Tags: Clin Genet Source Type: research

Multi-centre study of the clinical features and gene variant spectrum of Gitelman syndrome in Chinese children.
Abstract Based on the Chinese Children Genetic Kidney Disease Database (CCGKDD), we established a paediatric Gitelman syndrome (GS) cohort to explore the phenotype and genotype characteristics. 32 patients with SLC12A3 gene variants were collected. 5 cases (16%) were homozygous, 16 (50%) were compound heterozygous, 10 (31%) carried only a single variant, and the other one harbored two de novo variants beyond classification. p.(T60M) was found in 8 patients. The average diagnosis age was 7.79 ± 3.54 years. 31% of the patients were asymptomatic. Muscle weakness was the most common symptom, accou...
Source: Clinical Genetics - December 31, 2020 Category: Genetics & Stem Cells Authors: Shen Q, Chen J, Yu M, Lin Z, Nan X, Dong B, Fang X, Chen J, Ding G, Zhang A, Gao C, Miao L, Xu Y, Jiang X, Bai H, Zhuang J, Gao X, Xu H Tags: Clin Genet Source Type: research

IQSEC2 disorder: a new disease entity or a Rett spectrum continuum?
This article is protected by copyright. All rights reserved. PMID: 33368194 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - December 28, 2020 Category: Genetics & Stem Cells Authors: Lopergolo D, Privitera F, Castello G, Lo Rizzo C, Mencarelli MA, Maria Pinto A, Ariani F, Currò A, Lamacchia V, Canitano R, Vaghi E, Ferrarini A, Mejia Baltodano G, Lederer D, Van Maldergem L, Serrano M, Pineda M, Fons-Estupina MDC, Van Esch H, Breckpot Tags: Clin Genet Source Type: research

A rare disease and education: Neurofibromatosis type 1 decreases educational attainment.
In conclusion, NF1 is associated with reduced educational attainment and tendency for affected individuals to obtain vocational instead of academic education. Individuals living with NF1, especially those with cancer, developmental disorders or familial NF1, need effective student counselling and learning assistance. This article is protected by copyright. All rights reserved. PMID: 33368180 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - December 27, 2020 Category: Genetics & Stem Cells Authors: Johansson E, Kallionpää RA, Böckerman P, Peltonen J, Peltonen S Tags: Clin Genet Source Type: research

Congenital hypothyroidism and hearing loss without inner ear malformation: Think TPO.
eau D PMID: 33368191 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - December 27, 2020 Category: Genetics & Stem Cells Authors: Ziegler A, Denommé-Pichon AS, Boucher S, Bouzamondo N, Colin E, Dieu X, Jean Yves T, Bouhours N, Rouleau S, Coutant R, Rodien P, Prunier D, Bonneau D Tags: Clin Genet Source Type: research

Smith-Magenis syndrome (SMS): clinical and behavioral characteristics in a large retrospective cohort.
This article is protected by copyright. All rights reserved. PMID: 33368193 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - December 27, 2020 Category: Genetics & Stem Cells Authors: Rive Le Gouard N, Jacquinet A, Ruaud L, Deleersnyder H, Ageorge F, Gallard J, Lacombe D, Odent S, Mikaty M, Manouvrier-Hanu S, Ghoumid J, Geneviève D, Lehman N, Philip N, Edery P, Héron D, Rastel C, Chancenotte S, Thauvin-Robinet C, Faivre L, Perrin L, Tags: Clin Genet Source Type: research

Clinical Genetics paving the way to the future.
PMID: 33368166 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - December 26, 2020 Category: Genetics & Stem Cells Authors: Veitia RA Tags: Clin Genet Source Type: research

Biallelic loss-of-function HACD1 variants are a bona fide cause of congenital myopathy.
This article is protected by copyright. All rights reserved. PMID: 33354762 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - December 22, 2020 Category: Genetics & Stem Cells Authors: Abbasi-Moheb L, Westenberger A, Alotaibi M, Alghamdi MA, Hertecant JL, Ariamand A, Beetz C, Rolfs A, Bertoli-Avella AM, Bauer P Tags: Clin Genet Source Type: research

Compound heterozygosity for PTPN11 variants in a subject with Noonan syndrome provides insights into the mechanism of SHP2-related disorders.
This article is protected by copyright. All rights reserved. PMID: 33354767 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - December 22, 2020 Category: Genetics & Stem Cells Authors: Lorca R, Pannone L, Cuesta-Llavona E, Bocchinfuso G, Rodríguez-Reguero J, Carpentieri G, Hernando I, Flex E, Tartaglia M, Coto E, Gómez J, Martinelli S Tags: Clin Genet Source Type: research

Genetic diagnosis of infantile-onset epilepsy in the clinic: Application of whole-exome sequencing following epilepsy gene panel testing.
This study aimed to evaluate the clinical utility of whole-exome sequencing in a group of infantile-onset epilepsy patients who tested negative for epilepsy using a gene panel test. Whole-exome sequencing was performed on 59 patients who tested negative on customized epilepsy gene panel testing. We identified eight pathogenic or likely pathogenic sequence variants in eight different genes (FARS2, YWHAG, KCNC1, DYRK1A, SMC1A, PIGA, OGT, and FGF12), one pathogenic structural variant (8.6 Mb-sized deletion on chromosome X [140994419-149 630 805]), and three putative low-frequency mosaic variants from thre...
Source: Clinical Genetics - December 21, 2020 Category: Genetics & Stem Cells Authors: Kim SY, Jang SS, Kim H, Hwang H, Choi JE, Chae JH, Kim KJ, Lim BC Tags: Clin Genet Source Type: research

Molecular Intrinsic versus Clinical Subtyping in Breast Cancer: A Comprehensive Review.
Abstract Breast cancer is one of the primary causes of death in women, and it is the most common type of cancer in Canada and many other countries around the world 1,2 . It is estimated that in 2020, breast cancer cases would account for 25% of total new cancer cases in Canada 1,3 . Breast cancer is a heterogeneous disease manifesting diversity at the molecular, histological and clinical level 4 . This heterogeneity resulted in trying to classify breast cancer patients using different approaches. The purpose of breast cancer classification is to determine the optimal treatment plan for patients, based on the known...
Source: Clinical Genetics - December 19, 2020 Category: Genetics & Stem Cells Authors: Szymiczek A, Lone A, Akbari MR Tags: Clin Genet Source Type: research

Phenotypic spectrum of the RBM10-mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features.
We report two novel patients with truncating RBM10 variants in view of the literature, presenting a total of 26 patients from 15 unrelated families. Our results illustrate the highly pleiotropic nature of RBM10 pathogenic variants, beyond the classic TARP syndrome features. Major clinical characteristics include severe developmental delay, failure to thrive, brain malformations, neurological symptoms, respiratory issues and facial dysmorphism. Minor features are growth retardation, cardiac, gastrointestinal, limb and skeletal abnormalities. Additional recurrent features include genital and renal abnormalities as well as he...
Source: Clinical Genetics - December 19, 2020 Category: Genetics & Stem Cells Authors: Kumps C, D'Haenens E, Vergult S, Leus J, Van Coster R, Jansen A, Devriendt K, Oostra A, Vanakker OM Tags: Clin Genet Source Type: research

Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia.
This study identifies new associations for PRR12 disruption in humans and presents a genetic diagnosis resulting in unilateral ocular phenotypes in a significant proportion of cases. PMID: 33314030 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - December 13, 2020 Category: Genetics & Stem Cells Authors: Reis LM, Costakos D, Wheeler PG, Bardakjian T, Schneider A, Fung SSM, University of Washington Center for Mendelian Genomics, Semina EV Tags: Clin Genet Source Type: research

Progress on the Role of Extrachromosomal DNA in Tumor Pathogenesis and Evolution.
Abstract The amplification of oncogenes on extrachromosomal DNA (ecDNA) provides a new mechanism for cancer cells to adapt to the changes in the tumor microenvironment and accelerate tumor evolution. These extrachromosomal elements contain oncogenes, and their chromatin structures are more open than linear chromosomes and therefore have stronger oncogene transcriptional activity. ecDNA always contains enhancer elements, and genes on ecDNA can be reintegrated into the linear genome to regulate the selective expression of genes. ecDNA lacks centromeres, and the inheritance from the parent cell to the daughter cell i...
Source: Clinical Genetics - December 13, 2020 Category: Genetics & Stem Cells Authors: Xing J, Ning Q, Tang D, Mo Z, Lei X, Tang S Tags: Clin Genet Source Type: research

Infantile Liver Failure Syndrome 1 associated with a novel variant of the LARS1 gene: Clinical, genetic, and functional characterization.
PMID: 33314043 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - December 13, 2020 Category: Genetics & Stem Cells Authors: Tabolacci E, Molinario C, Marangi G, Nobile V, Arena V, Mendes MI, Smith DEC, Salomons GS, Tana M, Costa S, Vento G, Genuardi M Tags: Clin Genet Source Type: research

Biallelic mutations of CFAP58 are associated with multiple morphological abnormalities of the sperm flagella.
This study further indicated that CFAP58 is a pathogenic gene associated with MMAF and ICSI is an effective treatment. This article is protected by copyright. All rights reserved. PMID: 33314088 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - December 13, 2020 Category: Genetics & Stem Cells Authors: Sha Y, Sha Y, Liu W, Zhu X, Weng M, Zhang X, Wang Y, Zhou H Tags: Clin Genet Source Type: research

Novel ACTG2 variants disclose allelic heterogeneity and bi-allelic inheritance in Pediatric Chronic Intestinal Pseudo-Obstruction.
Abstract Variants in the ACTG2 gene, encoding a protein crucial for correct enteric muscle contraction, have been found in patients affected with Chronic Intestinal Pseudo-Obstruction, either congenital or late-onset visceral myopathy, and Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome (MMIHS). Here we report about ten pediatric and one adult probands, from nine families, carrying ACTG2 variants: four show novel still unpublished missense variants, including one that is apparently transmitted according to a recessive mode of inheritance. Four of the remaining five probands carry variants affecting argin...
Source: Clinical Genetics - December 8, 2020 Category: Genetics & Stem Cells Authors: Matera I, Bordo D, Di Duca M, Lerone M, Santamaria G, Pongiglione M, Lezo A, Diamanti A, Spagnuolo MI, Pini Prato A, Alberti D, Mattioli G, Gandullia P, Ceccherini I Tags: Clin Genet Source Type: research

Neuropsychological study in 19 French patients with White-Sutton syndrome and POGZ mutations.
CONCLUSION: This study reveals that the cognitive phenotype of patients with POGZ pathogenic variants can range from learning disabilities to severe ID. It highlights that pathogenic variations in the same genes can be reported in a large spectrum of neurocognitive profiles, and that children with learning disabilities could benefit from next generation sequencing techniques. PMID: 33277917 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - December 5, 2020 Category: Genetics & Stem Cells Authors: Garde A, Cornaton J, Sorlin A, Moutton S, Nicolas C, Juif C, Geneviève D, Perrin L, Khau-Van-Kien P, Smol T, Vincent-Delorme C, Isidor B, Cogne B, Afenjar A, Keren B, Coubes C, Prieur F, Toutain A, Trousselet Y, Bourgouin S, Gonin-Olympiade C, Giraudat K Tags: Clin Genet Source Type: research

A novel stop codon variant affecting ΔNp63 isoforms associated with non-syndromic limb-mammary phenotype and uterine cervix dysplasia.
A novel stop codon variant affecting ΔNp63 isoforms associated with non-syndromic limb-mammary phenotype and uterine cervix dysplasia. Clin Genet. 2020 Dec 01;: Authors: Guazzarotti L, Sani I, Giglio S, Brunello F, Perilongo G, Bocciardi R PMID: 33258108 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - December 1, 2020 Category: Genetics & Stem Cells Authors: Guazzarotti L, Sani I, Giglio S, Brunello F, Perilongo G, Bocciardi R Tags: Clin Genet Source Type: research

Tooth agenesis: What do we know and is there a connection to cancer?
Abstract Like all developmental processes, odontogenesis is highly complex and dynamically regulated, with hundreds of genes co-expressed in reciprocal networks. Tooth agenesis (missing one or more/all teeth) is a common human craniofacial anomaly and may be caused by genetic variations and/or environmental factors. Variants in PAX9, MSX1, AXIN2, EDA, EDAR and WNT10A genes are associated with tooth agenesis. Currently, variants in ATF1, DUSP10, CASC8, IRF6, KDF1, GREM2, LTBP3 and components and regulators of WNT signaling WNT10B, LRP6, DKK, KREMEN1 are at the forefront of interest. Due to the interconnectedness of...
Source: Clinical Genetics - November 29, 2020 Category: Genetics & Stem Cells Authors: Bonczek O, Krejci P, Izakovicova-Holla L, Cernochova P, Kiss I, Vojtesek B Tags: Clin Genet Source Type: research

Indigenous Arabs have an intermediate frequency of a Neanderthal-derived COVID-19 risk haplotype compared with other world populations.
PMID: 33245148 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - November 27, 2020 Category: Genetics & Stem Cells Authors: Mineta K, Goto K, Gojobori T, Alkuraya FS Tags: Clin Genet Source Type: research

Functional evidence of mTOR β splice variant involvement in the pathogenesis of congenital heart defects.
Functional evidence of mTORβ splice variant involvement in the pathogenesis of congenital heart defects. Clin Genet. 2020 Nov 24;: Authors: Gentile M, Ranieri C, Loconte DC, Ponzi E, Ficarella R, Volpe P, Scalzo G, Lepore Signorile M, Grossi V, Cordella A, Ventola GM, Susca FC, Turchiano A, Simone C, Resta N Abstract mTOR dysregulation has been described in pathological conditions such as cardiovascular and overgrowth disorders. Here we report on the first case of a patient with a complex congenital heart disease and an interstitial duplication in the short arm of chromosome 1, encompassing part ...
Source: Clinical Genetics - November 24, 2020 Category: Genetics & Stem Cells Authors: Gentile M, Ranieri C, Loconte DC, Ponzi E, Ficarella R, Volpe P, Scalzo G, Lepore Signorile M, Grossi V, Cordella A, Ventola GM, Susca FC, Turchiano A, Simone C, Resta N Tags: Clin Genet Source Type: research

Molecular and histologic insights on early onset cardiomyopathy in Danon disease females.
te;a-Guereta L, García-Miñaúr S, Lapunzina P, Vallespín E PMID: 33226119 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - November 23, 2020 Category: Genetics & Stem Cells Authors: Fernández L, Casamayor Polo L, Bravo García-Morato M, Enguita Valls AB, Ruiz-Bravo E, Muñoz-Cabello P, Ibáñez K, Rodríguez-Laguna L, Martín-Arenas R, Ortega M, Palomares-Bralo M, Del Pozo Á, García-Guereta L, García-Miñaúr S, Lapunzina P, Vall Tags: Clin Genet Source Type: research

Selective forces acting on spinocerebellar ataxia type 3/Machado-Joseph disease recurrency: a systematic review and meta-analysis.
Abstract Spinocerebellar ataxia type 3 (SCA3/MJD) is a dominant neurodegenerative disease caused by the expansion of a CAG repeat tract in ATXN3. Anticipation and worsening of clinical picture in subsequent generations were repeatedly reported, but there is no indication that SCA3/MJD frequency is changing. Thus, we performed a systematic review and meta-analysis on phenomena with potential effect on SCA3/MJD recurrency in populations: instability of CAG repeat transmissions, anticipation, fitness, and segregation of alleles. Transmission of the mutant allele was associated with an increase of 1.23 CAG repeats in ...
Source: Clinical Genetics - November 21, 2020 Category: Genetics & Stem Cells Authors: Sena LS, Dos Santos Pinheiro J, Saraiva-Pereira ML, Jardim LB Tags: Clin Genet Source Type: research

Null variants in DYSF result in earlier symptom onset.
Abstract We investigated the clinical, laboratory, and genetic spectra in Korean patients with dysferlinopathy to clarify its genotype-phenotype correlation. We retrospectively reviewed 101 patients from 96 unrelated families with pathogenic variants of DYSF. The most common initial phenotype was Miyoshi myopathy in 50 patients. Median ages at examination and symptom onset were 23 [interquartile range (IQR): 18-30] and 36 years [IQR: 27-48], respectively. We observed 38 variants, including nine novel variants. Four variants (c.2494C>T, c.1284+2T>C, c.663+1G>C, and c.2997G>T) in DYSF accounted fo...
Source: Clinical Genetics - November 20, 2020 Category: Genetics & Stem Cells Authors: Park HJ, Hong YB, Hong JM, Yun UK, Kim SW, Shin HY, Kim SM, Choi YC Tags: Clin Genet Source Type: research

Genetic Variations and Clinical Spectrum of Dystroglycanopathy in a Large Cohort of Chinese Patients.
Abstract Dystroglycanopathy is a group of muscular dystrophies with deficient glycosylation of alpha-dystroglycan (α-DG). We recruited patients from 36 tertiary academic hospitals in China. In total, 143 patients with genetically diagnosed dystroglycanopathy were enrolled. Of these, limb girdle muscular dystrophy was the most common initial diagnosis (83 patients) and Walker-Warburg syndrome was the least common (1 patient). In 143 patients, mutations in FKRP gene were the most prevalent (62 patients), followed by POMT2 (16), POMT1 (16), POMGNT1 (14), ISPD (14), FKTN (9), GMPPB (7), B3GALNT2 (3), DPM3 (1) an...
Source: Clinical Genetics - November 16, 2020 Category: Genetics & Stem Cells Authors: Song D, Dai Y, Chen X, Fu X, Chang X, Wang N, Zhang C, Yan C, Zheng H, Wu L, Jiang L, Hua Y, Yang H, Wang Z, Dai T, Zhu W, Han C, Yuan Y, Kobayashi K, Toda T, Xiong H Tags: Clin Genet Source Type: research

Deficiency of Acyl-CoA Synthetase 5 (ACSL5) is Associated with a Severe and Treatable Failure to Thrive of Neonatal Onset.
i A Abstract Failure to thrive (FTT) causes significant morbidity, often without clear etiologies. Six individuals of a large consanguineous family presented in the neonatal period with recurrent vomiting and diarrhea, leading to severe FTT. Standard diagnostic work up did not ascertain an etiology. Autozygosity mapping and whole exome sequencing identified homozygosity for a novel genetic variant of the long chain fatty acyl-CoA synthetase 5 (ACSL5) shared among the affected individuals (NM_203379.1:c.1358C > A:p.[Thr453Lys]). Autosomal recessive genotype-phenotype segregation was confirmed by Sa...
Source: Clinical Genetics - November 15, 2020 Category: Genetics & Stem Cells Authors: Al-Thihli K, Afting C, Al-Hashmi N, Mohammed M, Sliwinski S, Al-Shibli N, Al-Said K, Al-Kasbi G, Al-Kharusi K, Merle U, Füllekrug J, Al-Maawali A Tags: Clin Genet Source Type: research

Genotype-phenotype study and expansion of ARL6IP1-related complicated hereditary spastic paraplegia.
PMID: 33188530 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - November 13, 2020 Category: Genetics & Stem Cells Authors: Cao Y, Manning M, Pope K, He W, Vetrini F, Siskind C, Rosenfeld JA, Yang Y, Xiao R Tags: Clin Genet Source Type: research

Genotype FBN1/Phenotype relationship in a cohort of patients with Marfan syndrome.
This article is protected by copyright. All rights reserved. PMID: 33174221 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - November 11, 2020 Category: Genetics & Stem Cells Authors: Hernándiz A, Zúñiga A, Valera F, Domingo D, Ontoria-Oviedo I, Marí JF, Román JA, Calvo I, Insa B, Gómez R, Cervera JV, Miralles M, Montero JA, Martínez-Dolz L, Sepúlveda P Tags: Clin Genet Source Type: research

A novel heterozygous variant in FGF9 associated with previously unreported features of multiple synostosis syndrome 3.
This article is protected by copyright. All rights reserved. PMID: 33174625 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - November 11, 2020 Category: Genetics & Stem Cells Authors: Thuresson AC, Croft B, Hailer YD, Liminga G, Arvidsson CG, Harley VR, Stattin EL Tags: Clin Genet Source Type: research

Description of neurodevelopmental phenotypes associated with ten genetic neurodevelopmental disorders: A scoping review.
This article is protected by copyright. All rights reserved. PMID: 33179249 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - November 11, 2020 Category: Genetics & Stem Cells Authors: Hanly C, Shah H, Au PYB, Murias K Tags: Clin Genet Source Type: research

Genetic spectrum of Charcot-Marie-Tooth disease associated with myelin protein zero gene variants in Japan.
Abstract We aimed to reveal the genetic features associated with MPZ variants in Japan. From April 2007 to August 2017, 64 patients with 23 reported MPZ variants and 21 patients with 17 novel MPZ variants were investigated retrospectively. Variation in MPZ variants and the pathogenicity of novel variants was examined according to the American College of Medical Genetics standards and guidelines. Age of onset, cranial nerve involvement, serum creatine kinase and cerebrospinal fluid protein were also analyzed. We identified 64 CMT patients with reported MPZ variants. The common variants observed in Japan were differ...
Source: Clinical Genetics - November 11, 2020 Category: Genetics & Stem Cells Authors: Taniguchi T, Ando M, Okamoto Y, Yoshimura A, Higuchi Y, Hashiguchi A, Shiga K, Hayashida A, Hatano T, Ishiura H, Mitsui J, Hattori N, Mizuno T, Nakagawa M, Tsuji S, Takashima H Tags: Clin Genet Source Type: research

A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome.
ert C, Odent S, Katsanis N, Mandel JL, Erica DE, Dollfus H, Muller J Abstract Bardet-Biedl syndrome (BBS) is a ciliopathy characterized by retinitis pigmentosa, obesity, polydactyly, cognitive impairment and renal failure. Pathogenic variants in 24 genes account for the molecular basis of>80% of cases. Toward saturated discovery of the mutational basis of the disorder, we carefully explored our cohorts and identified a hominid-specific SINE-R/VNTR/Alu type F (SVA F) insertion in exon 13 of BBS1 in 8 families. In six families, the repeat insertion was found in trans with c.1169 T > G, p.M...
Source: Clinical Genetics - November 9, 2020 Category: Genetics & Stem Cells Authors: Delvallée C, Nicaise S, Antin M, Leuvrey AS, Nourisson E, Carmen LC, Kellaris G, Stoetzel C, Geoffroy V, Scheidecker S, Keren B, Depienne C, Klar J, Dahl N, Deleuze JF, Génin E, Redon R, Demurger F, Devriendt K, Mathieu-Dramard M, Poitou-Bernert C, Oden Tags: Clin Genet Source Type: research

PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations.
This study expands the PIGH deficiency phenotype range towards the severe end of the spectrum with the identification of a novel pathogenic variant. PMID: 33156547 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - November 6, 2020 Category: Genetics & Stem Cells Authors: Tremblay-Laganière C, Kaiyrzhanov R, Maroofian R, Nguyen TTM, Salayev K, Chilton IT, Chung WK, Madden JA, Phornphutkul C, Agrawal PB, Houlden H, Campeau PM Tags: Clin Genet Source Type: research

Identification of the third FGF9 variant in a girl with multiple synostosis - comparison of the genotype:phenotype of FGF9 variants in humans and mice.
te;s EV, Heath KE Abstract Multiple Synostosis syndrome (SYNS) is a heterogeneous group of genetic disorders mainly characterized by multiple joint synostosis due to variants in either NOG, GDF5, FGF9 or GDF6. To date, only two FGF9 variants have been associated with SYNS, characterized with hand and feet joint synostosis and fusion of the elbow and vertebral lumbar joints. Craniosynostosis was also observed in one family. Here, we report the clinical and radiological description of a young girl with a third heterozygous FGF9 variant, NM_002010.2:c.427A>T;p.(Asn143Tyr), which interestingly, is located at the sa...
Source: Clinical Genetics - November 2, 2020 Category: Genetics & Stem Cells Authors: Sentchordi-Montané L, Diaz-Gonzalez F, Cátedra-Vallés EV, Heath KE Tags: Clin Genet Source Type: research

WDR34, a candidate gene for non-syndromic rod-cone dystrophy.
erce EA, Dollfus H, Sahel JA, Bhattacharya SS, Audo I, Zeitz C Abstract Rod-cone dystrophy (RCD), also called Retinitis Pigmentosa, is characterized by rod followed by cone photoreceptor degeneration, leading to gradual visual loss. Mutations in over 65 genes have been associated with non-syndromic RCD explaining 60-70% of cases, with novel gene defects possibly accounting for the unsolved cases. Homozygosity mapping and whole exome sequencing applied to a case of autosomal recessive non-syndromic RCD from a consanguineous union identified a homozygous variant in WDR34. Mutations in WDR34 have been previously asso...
Source: Clinical Genetics - October 30, 2020 Category: Genetics & Stem Cells Authors: Solaguren-Beascoa M, Bujakowska KM, Méjécase C, Emmenegger L, Orhan E, Neuillé M, Mohand-Saïd S, Condroyer C, Lancelot ME, Michiels C, Demontant V, Antonio A, Letexier M, Saraiva JP, Lonjou C, Carpentier W, Léveillard T, Pierce EA, Dollfus H, Sahel J Tags: Clin Genet Source Type: research

Psychosis in NUS1 de novo mutation: New phenotypical presentation.
PMID: 33111323 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - October 28, 2020 Category: Genetics & Stem Cells Authors: Fraiman P, Maia-de-Oliveira JP, Moreira-Neto M, Godeiro-Junior C Tags: Clin Genet Source Type: research

Parkes-Weber syndrome related to RASA1 mosaic mutation.
PMID: 33118152 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - October 28, 2020 Category: Genetics & Stem Cells Authors: Boccara O, Eyries M, Pannier S, Ariche-Maman S, Hadj-Rabia S, Coulet F Tags: Clin Genet Source Type: research

A novel monogenic preimplantation genetic testing strategy for sporadic polycystic kidney caused by de novo PKD1 mutation.
This article is protected by copyright. All rights reserved. PMID: 33111320 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - October 27, 2020 Category: Genetics & Stem Cells Authors: Shi H, Niu W, Liu Y, Jin H, Song W, Shi S, Yao G, Xu J, Sun Y Tags: Clin Genet Source Type: research

Clinical application of a phenotype-based NGS panel for differential diagnosis of inherited kidney disease and the beyond.
This article is protected by copyright. All rights reserved. PMID: 33095447 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - October 23, 2020 Category: Genetics & Stem Cells Authors: Oh J, Shin JI, Lee K, Lee C, Ko Y, Lee JS Tags: Clin Genet Source Type: research

Vestibular Phenotype-Genotype Correlation in a Cohort of 90 Patients with Usher Syndrome.
Abstract Usher syndrome has been historically categorized into one of three classical types based on the patient phenotype. However, the vestibular phenotype does not infallibly predict which Usher genes are mutated. Conversely, the Usher syndrome genotype is not sufficient to reliably predict vestibular function. Here we present a characterization of the vestibular phenotype of 90 patients with clinical presentation of Usher syndrome (59 females), aged 10.9-75.5 years, with genetic variants in eight Usher syndromic genes and expand the description of atypical Usher syndrome. We identified unexpected horizo...
Source: Clinical Genetics - October 21, 2020 Category: Genetics & Stem Cells Authors: Wafa TT, Faridi R, King KA, Zalewski C, Yousaf R, Schultz JM, Morell RJ, Muskett J, Turriff A, Tsilo E, Griffith AJ, Friedman TB, Zein WM, Brewer CC Tags: Clin Genet Source Type: research