De novo missense variants in the RAP1B gene identified in two patients with syndromic thrombocytopenia.
We present two independent cases of syndromic thrombocytopenia with multiple malformations, microcephaly, learning difficulties, dysmorphism and other features. Exome sequencing identified two novel de novo heterozygous variants in these patients, c.35G>T p.(Gly12Val) and c.178G>C p.(Gly60Arg), in the RAP1B gene (NM_001010942.2). These variants have not been described previously as germline variants, however functional studies in literature strongly suggest a clinical implication of these two activating hot spot positions. We hypothesize that pathogenic missense variants in the RAP1B gene cause congenital syndromic t...
Source: Clinical Genetics - July 6, 2020 Category: Genetics & Stem Cells Authors: Niemann JH, Du C, Morlot S, Schmidt G, Auber B, Kaune B, Göhring G, Ripperger T, Schlegelberger B, Hofmann W, Smol T, Ait-Yahya E, Raimbault A, Lambilliotte A, Petit F, Steinemann D Tags: Clin Genet Source Type: research

A homozygous pathogenic variant in SHROOM3 associated with anencephaly and cleft lip and palate.
In this report, we present the first case of a human fetus with a homozygous loss of function variant in SHROOM3. The fetus presents with anencephaly and cleft lip and palate, similar to previously described Shroom3 mouse mutants and is suggestive of a novel monogenic cause of NTD. Our case provides clarification on the contribution of SHROOM3 to human development after decades of model organism research. PMID: 32621286 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - July 3, 2020 Category: Genetics & Stem Cells Authors: Deshwar AR, Martin N, Shannon P, Chitayat D Tags: Clin Genet Source Type: research

Fetal megacystis-microcolon: genetic mutational spectrum and identification of PDCL3 as a novel candidate gene.
This article is protected by copyright. All rights reserved. PMID: 32621347 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - July 3, 2020 Category: Genetics & Stem Cells Authors: Billon C, Molin A, Poirsier C, Clemenson A, Dauge C, Grelet M, Sigaudy S, Patrier S, Goldenberg A, Layet V, Tantau J, Fleury C, Liard A, Diguet A, Fritih R, Verspyck E, Rendu J, Boutaud L, Tessier A, Thomas S, Razavi F, Achaiaa A, Elkhartoufi N, Hakkakian Tags: Clin Genet Source Type: research

Pituitary stalk interruption syndrome broadens the clinical spectrum of the TTC26 ciliopathy.
This article is protected by copyright. All rights reserved. PMID: 32617964 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - July 2, 2020 Category: Genetics & Stem Cells Authors: David O, Eskin-Schwartz M, Ling G, Dolgin V, Kristal E, Benkowitz E, Osyntsov L, Gradstein L, Birk OS, Loewenthal N, Yerushalmi B Tags: Clin Genet Source Type: research

An exome-wide exploration of cases of primary ovarian insufficiency uncovers novel sequence variants and candidate genes.
Abstract Primary ovarian insufficiency (POI) implies the cessation of menstruation for several months in women before the age of 40 years and is a major cause of infertility. The study of the contribution of genetic factors to POI has been fueled by the use of whole exome sequencing (WES). Here, to uncover novel causative pathogenic variants and risk alleles, WES has been performed in 12 patients with familial POI (8 unrelated index cases and 2 couples of sisters) and 6 women with early menopause and family history of POI (4 index cases and 1 couple of sisters). Likely causative variants in NR5A1 and MCM9 g...
Source: Clinical Genetics - July 2, 2020 Category: Genetics & Stem Cells Authors: Alvarez-Mora MI, Todeschini AL, Caburet S, Perets LP, Mila M, Younis JS, Shalev S, Veitia RA Tags: Clin Genet Source Type: research

Phenotypic bases of NOTCH2NLC GGC expansion positive Neuronal Intranuclear Inclusion Disease (NIID) in a South East Asian cohort.
This article is protected by copyright. All rights reserved. PMID: 32602554 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - June 30, 2020 Category: Genetics & Stem Cells Authors: Chen Z, Xu Z, Cheng Q, Tan YJ, Ong HL, Zhao Y, Lim WK, Teo JX, Foo JN, Lee HY, Tan JMM, Hang L, Yu WY, Ting SKS, Tan EK, Lim TCC, Ng ASL Tags: Clin Genet Source Type: research

The role of long non-coding RNAs in drug resistance of cancer.
This article is protected by copyright. All rights reserved. PMID: 32583420 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - June 25, 2020 Category: Genetics & Stem Cells Authors: Zhang HD, Jiang LH, Zhong SL, Li J, Sun DW, Hou JC, Wang DD, Zhou SY, Tang JH Tags: Clin Genet Source Type: research

A homozygous stop gain mutation in BOD1 gene in a Lebanese patient with syndromic intellectual disability.
This article is protected by copyright. All rights reserved. PMID: 32578875 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - June 24, 2020 Category: Genetics & Stem Cells Authors: Hamdan N, Mehawej C, Sebaaly G, Jalkh N, Corbani S, Abou-Ghoch J, De Backer O, Chouery E Tags: Clin Genet Source Type: research

Early-onset Nucleotide Excision Repair disorders with neurological impairment: clues for early diagnosis and prognostic counselling.
Abstract Nucleotide Excision Repair associated diseases comprise overlapping phenotypes and a wide range of outcomes. The early stages still remain under-investigated and underdiagnosed, even though an early recognition of the first symptoms is of utmost importance for appropriate care and genetic counselling. We systematically collected clinical and molecular data from the literature and from newly diagnosed NER patients with neurological impairment, presenting clinical symptoms before the age of 12 months, including foetal cases. 185 patients were included, 13 with specific symptoms during foetal life. Arthrogry...
Source: Clinical Genetics - June 17, 2020 Category: Genetics & Stem Cells Authors: Baer S, Obringer C, Julia S, Chelly J, Capri Y, Gras D, Baujat G, Felix TM, Doray B, Del Pozo JS, Ramos LM, Burglen L, Laugel V, Calmels N Tags: Clin Genet Source Type: research

Novel PCNT variants in MOPDII with attenuated growth restriction and pachygyria.
z J Abstract Biallelic loss-of-function mutations in the centrosomal pericentrin gene (PCNT) cause microcephalic osteodysplastic primordial dwarfism type II (MOPDII), which is characterized by extreme growth retardation, microcephaly, skeletal dysplasia, and dental anomalies. Life expectancy is reduced due to a high risk of cerebral vascular anomalies. Here, we report two siblings with MOPDII and attenuated growth restriction, and pachygyria. Compound heterozygosity for two novel truncated PCNT variants was identified. Both truncated PCNT proteins were expressed in patient's fibroblasts, with a reduced total prote...
Source: Clinical Genetics - June 17, 2020 Category: Genetics & Stem Cells Authors: Waich S, Janecke AR, Parson W, Greber-Platzer S, Müller T, Huber LA, Valovka T, Vodopiutz J Tags: Clin Genet Source Type: research

Expanding the phenotypic spectrum consequent upon de novo WDR37 missense variants.
This study characterizes the phenotypic spectrum of this disorder and reports 2 de novo heterozygous variants (p.Thr115Ile, p.Ser119Tyr) in three unrelated Caucasian individuals. All had a clinical phenotype consisting of bilateral iris and retinal coloboma, developmental delay and additional, variable multisystem features. The variants fall within a highly conserved region upstream of the WD-repeat domains, within an apparent mutation cluster. Consistent with the literature, intellectual disability, structural eye disorders, epilepsy, congenital heart disease, genitorenal anomalies and dysmorphic facial features were obse...
Source: Clinical Genetics - June 12, 2020 Category: Genetics & Stem Cells Authors: Hay E, Henderson RH, Mansour S, Deshpande C, Jones R, Nutan S, Mankad K, Young RM, Moosajee M, Genomics UK Research Consortium, Arno G Tags: Clin Genet Source Type: research

Gene editing technology for improving life quality: A dream coming true?
Abstract The fact that monogenic diseases are related to mutations in one specific gene, make gene correction one of the promising strategies in the future to treat genetic diseases or alleviate their symptoms. From this perspective, and along with recent advances in technology, genome editing tools have gained momentum and developed fast. In fact, clustered regularly interspaced short palindromic repeats-associated protein 9 (CRISPR/Cas9), transcription activator-like effector nucleases (TALENs), and zinc-finger nucleases (ZFNs) are regarded as novel technologies which are able to correct a number of genetic aber...
Source: Clinical Genetics - June 7, 2020 Category: Genetics & Stem Cells Authors: Ramezankhani R, Minaei N, Haddadi M, Torabi S, Hesaraki M, Mirzaee H, Vosough M, Verfaillie CM Tags: Clin Genet Source Type: research

Genotype-phenotype correlations on epidermolysis bullosa with congenital absence of skin: a comprehensive review.
This study is the largest review of patients with EB and CAS and expands the spectrum of known variants on this phenomenon. This article is protected by copyright. All rights reserved. PMID: 32506467 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - June 7, 2020 Category: Genetics & Stem Cells Authors: Mariath LM, Santin JT, Frantz JA, Doriqui MJR, Schuler-Faccini L, Kiszewski AE Tags: Clin Genet Source Type: research

Diagnostic yield of targeted sequential and massive panel approaches for inherited neuropathies.
This article is protected by copyright. All rights reserved. PMID: 32506583 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - June 7, 2020 Category: Genetics & Stem Cells Authors: Padilha JPD, Brasil CS, Hoefel AML, Winckler PB, Donis KC, Brusius Facchin AC, Saute JAM Tags: Clin Genet Source Type: research

Next-generation sequencing through multi-gene panel testing for the diagnosis of hereditary epidermolysis bullosa in Chinese population.
This study demonstrates that next-generation technology could be an effective tool in diagnosing EB. This article is protected by copyright. All rights reserved. PMID: 32484238 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - June 2, 2020 Category: Genetics & Stem Cells Authors: Chen F, Huang L, Li C, Zhang J, Yang W, Zhang B, Li H, Deng D, Liang J, Shen J, Yao Z, Li M Tags: Clin Genet Source Type: research

A novel ribosomal protein S20 variant in a family with unexplained colorectal cancer and polyposis.
PMID: 32424863 [PubMed - in process] (Source: Clinical Genetics)
Source: Clinical Genetics - May 20, 2020 Category: Genetics & Stem Cells Authors: Thompson BA, Snow AK, Koptiuch C, Kohlmann WK, Mooney R, Johnson S, Huff CD, Yu Y, Teerlink CC, Feng BJ, Neklason DW, Cannon-Albright LA, Tavtigian SV Tags: Clin Genet Source Type: research

Refinement of the Clinical and Mutational Spectrum of UBE2A Deficiency Syndrome.
Deciphering Developmental Disorders Study, Melis D, Callewaert B, Dallapiccola B, Klee E, Tartaglia M PMID: 32415735 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - May 15, 2020 Category: Genetics & Stem Cells Authors: Cordeddu V, Macke EL, Radio FC, Cicero SL, Pantaleoni F, Tatti M, Bellacchio E, Ciolfi A, Agolini E, Bruselles A, Brunetti-Pierri N, Suri M, Josephs KS, McEntagart M, Lanpher B, Nickels KC, Haworth A, Reed L, Cappuccio G, Mammi I, Tarnowski JM, Novelli A, Tags: Clin Genet Source Type: research

Prenatal exome sequencing in fetuses with congenital heart defects.
This article is protected by copyright. All rights reserved. PMID: 32410215 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - May 14, 2020 Category: Genetics & Stem Cells Authors: Li R, Fu F, Yu Q, Wang D, Jing X, Zhang Y, Li F, Li F, Han J, Pan M, Zhen L, Li D, Liao C Tags: Clin Genet Source Type: research

Genetic predisposition in Type 2 Diabetes: a promising approach towards a personalized management of diabetes.
This article is protected by copyright. All rights reserved. PMID: 32385895 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - May 8, 2020 Category: Genetics & Stem Cells Authors: Sirdah MM, Reading NS Tags: Clin Genet Source Type: research

Clinical and radiological characterization of novel FIG4-related combined system disease with neuropathy.
This article is protected by copyright. All rights reserved. PMID: 32385905 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - May 8, 2020 Category: Genetics & Stem Cells Authors: Wright GC, Brown R, Grayton H, Livingston JH, Park SM, Parker APJ, Patel A, Simonic I, Thomas AG, Vadlamani G, Horvath R, Harijan PD Tags: Clin Genet Source Type: research

A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency.
This article is protected by copyright. All rights reserved. PMID: 32385911 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - May 8, 2020 Category: Genetics & Stem Cells Authors: Yatsuka Y, Kishita Y, Formosa LE, Shimura M, Nozaki F, Fujii T, Nitta KR, Ohtake A, Murayama K, Ryan MT, Okazaki Y Tags: Clin Genet Source Type: research

Epidermolysis bullosa with congenital absence of skin: Clinical and genetic characterization of a 23-case series.
PMID: 32383240 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - May 7, 2020 Category: Genetics & Stem Cells Authors: Mariath LM, Santin JT, Frantz JA, Doriqui MJR, Schuler-Faccini L, Kiszewski AE Tags: Clin Genet Source Type: research

GREB1L variants in familial and sporadic hereditary urogenital adysplasia and Mayer-Rokitansky-Kuster-Hauser syndrome.
This article is protected by copyright. All rights reserved. PMID: 32378186 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - May 7, 2020 Category: Genetics & Stem Cells Authors: Adeline J, Bouchra B, Corinne F, Jerôme T, Claire J, Aimé L, Elise BB, Christèle D, Véronique D, Laurent P, Anna L, Karine M, Daniel G, Vincent B Tags: Clin Genet Source Type: research

A strategy using SNP linkage analysis for monogenic diseases PGD combined with HLA typing.
This study offers a highly flexible and precise method which could eliminate misdiagnosis caused by chromosomal recombination of the HLA gene, thus potentially benefit the success rate of HSCT. This article is protected by copyright. All rights reserved. PMID: 32378203 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - May 7, 2020 Category: Genetics & Stem Cells Authors: Wang Y, Qin M, Yan Z, Guan S, Kuo Y, Kong S, Nie Y, Zhu X, Zhi X, Qiao J, Yan L Tags: Clin Genet Source Type: research

Complete resolution of epileptic spasms with vigabatrin in a patient with 3-methylglutaconic aciduria caused by TIMM50 gene mutation.
PMID: 32369862 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - May 5, 2020 Category: Genetics & Stem Cells Authors: Mir A, Hadab S, Sammak M, Alhazmi R, Housawi Y, Bashir S Tags: Clin Genet Source Type: research

High prevalence of Bardet-Biedl syndrome in La R éunion Island is due to a founder variant in ARL6/BBS3.
This article is protected by copyright. All rights reserved. PMID: 32361989 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - May 3, 2020 Category: Genetics & Stem Cells Authors: Gouronc A, Zilliox V, Jacquemont ML, Darcel F, Leuvrey AS, Nourisson E, Antin M, Alessandri JL, Doray B, Gueguen P, Payet F, Randrianaivo H, Stoetzel C, Scheidecker S, Flodrops H, Dollfus H, Muller J Tags: Clin Genet Source Type: research

A novel TRAF3IP2 variant causing familial scarring alopecia with mixed features of discoid lupus erythematosus and folliculitis decalvans.
In conclusion, this is the first report on a new putative role for TRAF3IP2 in the etiology of DLE. The identified molecular features associated with this gene could pave the way for better DLE-targeted treatment. PMID: 32350852 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - April 30, 2020 Category: Genetics & Stem Cells Authors: Nemer G, El-Hachem N, Eid E, Hamie L, Bardawil T, Khalil S, El-Rassy I, Safi R, Khalil A, Abbas O, Shimomura Y, Kurban M Tags: Clin Genet Source Type: research

A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability.
PMID: 32349160 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - April 29, 2020 Category: Genetics & Stem Cells Authors: Pinelli M, Terrone G, Troglio F, Squeo GM, Cappuccio G, Imperati F, Pignataro P, Genesio R, Nitch L, Del Giudice E, Merla G, Testa G, Brunetti-Pierri N Tags: Clin Genet Source Type: research

HNRNPH1-related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome.
This article is protected by copyright. All rights reserved. PMID: 32335897 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - April 26, 2020 Category: Genetics & Stem Cells Authors: Reichert SC, Li R, Turner S, van Jaarsveld RH, Massink MPG, van den Boogaard MH, Del Toro M, Rodríguez-Palmero A, Fourcade S, Schlüter A, Planas-Serra L, Pujol A, Iascone M, Maitz S, Loong L, Stewart H, De Franco E, Ellard S, Frank J, Lewandowski R Tags: Clin Genet Source Type: research

Deletions of specific exons of FHOD3 detected by next-generation-sequencing are associated with hypertrophic cardiomyopathy.
This study highlights the importance of performing CNV analysis systematically in NGS genetic testing panels for HCM, and reinforce the relevance of the FHOD3 gene in the disease. This article is protected by copyright. All rights reserved. PMID: 32335906 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - April 26, 2020 Category: Genetics & Stem Cells Authors: Ochoa JP, Lopes LR, Pérez-Barbeito M, Cazón L, de la Torre-Carpente MM, Sonicheva-Paterson N, de Uña-Iglesias D, Quinn E, Kuzmina-Krutetskaya SS, Garrote JA, Elliott PM, Monserrat L Tags: Clin Genet Source Type: research

Next-Generation Sequencing approaches and challenges in the diagnosis of developmental anomalies and intellectual disability.
This article is protected by copyright. All rights reserved. PMID: 32335911 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - April 26, 2020 Category: Genetics & Stem Cells Authors: Bruel AL, Vitobello A, Mau-Them FT, Nambot S, Sorlin A, Denommé-Pichon AS, Delanne J, Moutton S, Callier P, Duffourd Y, Philippe C, Faivre L, Thauvin-Robinet C Tags: Clin Genet Source Type: research

Expanding the clinical spectrum of Fowler syndrome: three siblings with survival into adulthood and systematic review of the literature.
This article is protected by copyright. All rights reserved. PMID: 32333401 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - April 24, 2020 Category: Genetics & Stem Cells Authors: De Luca C, Crow YJ, Rodero M, Rice GI, Ahmed M, Lammens M, De Cock P, Van Esch H, Lagae L, Rochtus A Tags: Clin Genet Source Type: research

ADAMTS19 associated heart valve defects: novel genetic variants consolidating a recognizable cardiac phenotype.
This article is protected by copyright. All rights reserved. PMID: 32323311 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - April 23, 2020 Category: Genetics & Stem Cells Authors: Massadeh S, AlHashem A, van de Laar I, Alhabshan F, Ordonez N, Alawbathani S, Khan S, Kabbani MS, Chaikhouni F, Sheereen A, Almohammed I, Alghamdi B, Frohn-Mulder I, Ahmad S, Beetz C, Bauer P, Wessels MW, Alaamery M, Bertoli-Avella AM Tags: Clin Genet Source Type: research

PDCD6IP, encoding a regulator of the ESCRT complex, is mutated in microcephaly.
This study provides evidence that clinical manifestations of PDCD6IP mutations as seen in our patients with PM and ID may be a novel cause for neurodevelopmental disorders. This article is protected by copyright. All rights reserved. PMID: 32286682 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - April 14, 2020 Category: Genetics & Stem Cells Authors: Khan A, Alaamery M, Massadeh S, Obaid A, Kashgari AA, Walsh CA, Eyaid W Tags: Clin Genet Source Type: research

Kosaki overgrowth syndrome: a novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications.
This article is protected by copyright. All rights reserved. PMID: 32291752 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - April 14, 2020 Category: Genetics & Stem Cells Authors: Foster A, Chalot B, Antoniadi T, Schaefer E, Keelagher R, Ryan G, Thomas Q, Philippe C, Bruel AL, Sorlin A, Thauvin-Robinet C, Bardou M, Luu M, Quenardelle V, Wolff V, Woodley J, Vabres P, Lim D, Igbokwe R, Joseph A, Walker H, Jester A, Ellenbogen J, John Tags: Clin Genet Source Type: research

Novel mutations in PMFBP1, TSGA10 and SUN5: Expanding the spectrum of mutations that may cause acephalic spermatozoa.
PMID: 32285443 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - April 13, 2020 Category: Genetics & Stem Cells Authors: Liu G, Wang N, Zhang H, Yin S, Dai H, Lin G, Li W Tags: Clin Genet Source Type: research

Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature.
In conclusion, our findings provide evidence of the role of KDM5C in ID in females highlighting the increasing implication of XLID genes in females, even in sporadic affected individuals. Disease expression of XLID in females should be taken into consideration for genetic counseling. This article is protected by copyright. All rights reserved. PMID: 32279304 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - April 11, 2020 Category: Genetics & Stem Cells Authors: Carmignac V, Nambot S, Lehalle D, Callier P, Moortgat S, Benoit V, Ghoumid J, Delobel B, Smol T, Thuillier C, Zordan C, Naudion S, Bienvenu T, Touraine R, Ramond F, Zweier C, Reis A, Kraus C, Nizon M, Cogné B, Verloes A, Mau-Them FT, Sorlin A, Jouan T, D Tags: Clin Genet Source Type: research

Comprehensive molecular analysis of 61 Egyptian families with hereditary nonsyndromic hearing loss.
This article is protected by copyright. All rights reserved. PMID: 32279305 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - April 11, 2020 Category: Genetics & Stem Cells Authors: Budde BS, Aly MA, Mohamed MR, Breß A, Altmüller J, Motameny S, Kawalia A, Thiele H, Konrad K, Becker C, Toliat MR, Nürnberg G, Said EA, Mohamed ES, Pfister M, Nürnberg P Tags: Clin Genet Source Type: research

Primrose Syndrome: characterization of the phenotype in 42 patients.
We present 13 hitherto unpublished individuals and summarize the clinical and molecular findings in all 42 patients. Several signs and symptoms of PS develop during childhood but the cardinal features, such as calcification of the external ears, cystic bone lesions, muscle wasting, and contractures typically develop between 10 and 16 years of age. Biochemically, anemia and increased alpha-fetoprotein levels are often present. Two adult males with PS developed a testicular tumor. Although PS should be regarded as a progressive entity, there are no indications that cognition becomes more impaired with age. No obvious ...
Source: Clinical Genetics - April 8, 2020 Category: Genetics & Stem Cells Authors: Melis D, Carvalho D, Barbaro-Dieber T, Espay AJ, Gambello MJ, Gener B, Gerkes E, Hitzert MM, Hove HB, Jansen S, Jira PE, Lachlan K, Menke LA, Narayanan V, Ortiz D, Overwater E, Posmyk R, Ramsey K, Rossi A, Sandoval RL, Stumpel C, Stuurman KE, Cordeddu V, Tags: Clin Genet Source Type: research

New insight into the Role of Substance P/Neurokinin-1 Receptor System in Breast Cancer Progression and Its Crosstalk with MicroRNAs.
This article is protected by copyright. All rights reserved. PMID: 32266968 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - April 8, 2020 Category: Genetics & Stem Cells Authors: Ebrahimi S, Javid H, Alaei A, Hashemy SI Tags: Clin Genet Source Type: research

VEGFA variants as prognostic markers for the retinopathy in Pseudoxanthoma elasticum.
This study aimed to validate the previously suggested association of five single nucleotide VEGFA variants (rs13207351, rs833061, rs699947, rs25648 and rs1413711) with a severe PXE retinopathy in an independent cohort. Direct Sanger sequencing was performed in 100 PXE patients, with a mild (56) or severe (44) PXE retinopathy. The inclusion criteria for a severe retinopathy were a unilateral best-corrected visual acuity of
Source: Clinical Genetics - April 8, 2020 Category: Genetics & Stem Cells Authors: De Vilder EYG, Hosen MJ, Martin L, De Zaeytijd J, Leroy BP, Ebran JM, Coucke PJ, De Paepe A, Vanakker OM Tags: Clin Genet Source Type: research

Epigenetic variations due to nutritional status in early-life and its later impact on aging and disease.
This article is protected by copyright. All rights reserved. PMID: 32246454 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - April 4, 2020 Category: Genetics & Stem Cells Authors: Gomez-Verjan JC, Barrera-Vázquez OS, García-Velázquez L, Samper-Ternent R, Arroyo P Tags: Clin Genet Source Type: research

Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variants.
This article is protected by copyright. All rights reserved. PMID: 32233106 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - March 31, 2020 Category: Genetics & Stem Cells Authors: Ranza E, Guimier A, Verloes A, Capri Y, Marques C, Auclair M, Mathieu-Dramard M, Morin G, Thevenon J, Faivre L, Thauvin-Robinet C, Innes AM, Dyment DA, Vigouroux C, Amiel J Tags: Clin Genet Source Type: research

A novel homozygous variant in NLRP5 is associate with human early embryonic arrest in a consanguineous Chinese family.
This article is protected by copyright. All rights reserved. PMID: 32222962 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - March 29, 2020 Category: Genetics & Stem Cells Authors: Xu Y, Qian Y, Liu Y, Wang Q, Wang R, Zhou Y, Zhang C, Pang Z, Ye H, Xue S, Sun L Tags: Clin Genet Source Type: research

Mutational and clinical spectrum in a cohort of Chinese patients with hereditary nemaline myopathy.
This article is protected by copyright. All rights reserved. PMID: 32222963 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - March 29, 2020 Category: Genetics & Stem Cells Authors: Wang Q, Hu Z, Chang X, Yu M, Xie Z, Lv H, Zhang W, Xiong H, Yuan Y, Wang Z Tags: Clin Genet Source Type: research

Genetics Of Feline Hypertrophic Cardiomyopathy.
This article is protected by copyright. All rights reserved. PMID: 32215921 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - March 25, 2020 Category: Genetics & Stem Cells Authors: Gil-Ortuño C, Sebastián-Marcos P, Sabater-Molina M, Nicolas-Rocamora E, Gimeno-Blanes JR, Fernández Del Palacio MJ Tags: Clin Genet Source Type: research

A GWAS identifies FSHR rs2300441 associated with Follicle-stimulating Hormone levels.
In conclusion, we identified genome-wide significant association between variants in FSHR and circulating FSH firstly, with the top associated variant rs2300441 might be a primary contributor at the population level. PMID: 32185793 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - March 17, 2020 Category: Genetics & Stem Cells Authors: Yan J, Tian Y, Gao X, Cui L, Ning Y, Cao Y, Chen Y, Peng F, You L, Liu F, Zhao H Tags: Clin Genet Source Type: research

A nonsense variant in NME5 causes human primary ciliary dyskinesia with radial spoke defects.
This article is protected by copyright. All rights reserved. PMID: 32185794 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - March 17, 2020 Category: Genetics & Stem Cells Authors: Cho EH, Huh HJ, Jeong I, Lee NY, Koh WJ, Park HC, Ki CS Tags: Clin Genet Source Type: research

Encephalopathy due to defective mitochondrial and peroxisomal fission 2 caused by a novel MFF gene mutation in a young child.
This article is protected by copyright. All rights reserved. PMID: 32181496 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - March 17, 2020 Category: Genetics & Stem Cells Authors: Panda I, Ahmad I, Sagar S, Zahra S, Shamim U, Sharma S, Faruq M Tags: Clin Genet Source Type: research

A new 1p36.13-1p36.12 microdeletion syndrome characterized by learning disability, behavioral abnormalities, and ptosis.
This article is protected by copyright. All rights reserved. PMID: 32170730 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - March 13, 2020 Category: Genetics & Stem Cells Authors: Nolting L, Brasch-Andersen C, Cox H, Kanani F, Parker M, Fry AE, Loddo S, Novelli A, Dentici ML, Shelagh J, Jørgensen JP, Fagerberg CR Tags: Clin Genet Source Type: research