Biallelic intragenic tandem duplication of CPLANE1 in Joubert syndrome: a case report
We present a case of JS diagnosed after the identification of a novel biallelic intragenic duplication of exons 20-46 of CPLANE1. The quadruplication was identified by short-read sequencing and copy number variant analysis and confirmed in tandem by long PCR with the breakpoints defined by a nanopore-based long-read sequencing approach. Based on the genetic findings and the clinical presentation of the patient, a brain MRI was ordered, evidencing the molar tooth sign, which confirmed the diagnosis of JS in the patient. This is, to the best of our knowledge, the first report of an intragenic duplication in this gene as the ...
Source: Clinical Genetics - January 31, 2023 Category: Genetics & Stem Cells Authors: Francisco Mart ínez-Granero Elena Mart ínez-Cayuelas Cristina Rodilla Gonzalo N úñez-Moreno Marta Rodr íguez de Alba Fiona Blanco-Kelly Raquel Romero Pablo Minguez Carmen Ayuso Isabel Lorda-Sanchez Marta Corton Berta Almoguera Source Type: research
Biallelic intragenic tandem duplication of CPLANE1 in Joubert syndrome: a case report
We present a case of JS diagnosed after the identification of a novel biallelic intragenic duplication of exons 20-46 of CPLANE1. The quadruplication was identified by short-read sequencing and copy number variant analysis and confirmed in tandem by long PCR with the breakpoints defined by a nanopore-based long-read sequencing approach. Based on the genetic findings and the clinical presentation of the patient, a brain MRI was ordered, evidencing the molar tooth sign, which confirmed the diagnosis of JS in the patient. This is, to the best of our knowledge, the first report of an intragenic duplication in this gene as the ...
Source: Clinical Genetics - January 31, 2023 Category: Genetics & Stem Cells Authors: Francisco Mart ínez-Granero Elena Mart ínez-Cayuelas Cristina Rodilla Gonzalo N úñez-Moreno Marta Rodr íguez de Alba Fiona Blanco-Kelly Raquel Romero Pablo Minguez Carmen Ayuso Isabel Lorda-Sanchez Marta Corton Berta Almoguera Source Type: research
Biallelic intragenic tandem duplication of CPLANE1 in Joubert syndrome: a case report
We present a case of JS diagnosed after the identification of a novel biallelic intragenic duplication of exons 20-46 of CPLANE1. The quadruplication was identified by short-read sequencing and copy number variant analysis and confirmed in tandem by long PCR with the breakpoints defined by a nanopore-based long-read sequencing approach. Based on the genetic findings and the clinical presentation of the patient, a brain MRI was ordered, evidencing the molar tooth sign, which confirmed the diagnosis of JS in the patient. This is, to the best of our knowledge, the first report of an intragenic duplication in this gene as the ...
Source: Clinical Genetics - January 31, 2023 Category: Genetics & Stem Cells Authors: Francisco Mart ínez-Granero Elena Mart ínez-Cayuelas Cristina Rodilla Gonzalo N úñez-Moreno Marta Rodr íguez de Alba Fiona Blanco-Kelly Raquel Romero Pablo Minguez Carmen Ayuso Isabel Lorda-Sanchez Marta Corton Berta Almoguera Source Type: research
Biallelic intragenic tandem duplication of CPLANE1 in Joubert syndrome: A case report
We present a case of JS diagnosed after the identification of a novel biallelic intragenic duplication of exons 20-46 of CPLANE1. The quadruplication was identified by short-read sequencing and copy number variant analysis and confirmed in tandem by long PCR with the breakpoints defined by a nanopore-based long-read sequencing approach. Based on the genetic findings and the clinical presentation of the patient, a brain MRI was ordered, evidencing the molar tooth sign, which confirmed the diagnosis of JS in the patient. This is, to the best of our knowledge, the first report of an intragenic duplication in this gene as the ...
Source: Clinical Genetics - January 31, 2023 Category: Genetics & Stem Cells Authors: Francisco Mart ínez-Granero Elena Mart ínez-Cayuelas Cristina Rodilla Gonzalo N úñez-Moreno Marta Rodr íguez de Alba Fiona Blanco-Kelly Raquel Romero Pablo Minguez Carmen Ayuso Isabel Lorda-Sanchez Marta Corton Berta Almoguera Source Type: research
Interactions between TULP3 tubby domain and ARL13B amphipathic helix promote lipidated protein transport to cilia
Mol Biol Cell. 2023 Jan 18:mbcE22100473. doi: 10.1091/mbc.E22-10-0473. Online ahead of print.ABSTRACTThe primary cilium is a nexus for cell signaling and relies on specific protein trafficking for function. The tubby family protein-TULP3 transports integral membrane proteins into cilia through interactions with the intraflagellar transport complex-A (IFT-A) and phosphoinositides. We previously showed that short motifs called ciliary localization sequences (CLSs) are necessary and sufficient for TULP3-dependent ciliary trafficking of transmembrane cargoes. However, the mechanisms by which TULP3 regulates ciliary compartment...
Source: Mol Biol Cell - January 18, 2023 Category: Molecular Biology Authors: Vivek Reddy Palicharla Sun-Hee Hwang Bandarigoda N Somatilaka Emilie Legu é Issei S Shimada Nicole E Familiari Vanna M Tran Jeffrey B Woodruff Karel F Liem Saikat Mukhopadhyay Source Type: research
A novel 1.38-kb deletion combined with a single nucleotide variant in KIAA0586 as a cause of Joubert syndrome
KIAA0586, also known as Talpid3, plays critical roles in primary cilia formation and hedgehog signaling in humans. Variants in KIAA0586 could cause some different ciliopathies, including Joubert syndrome (JBTS), ... (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - January 12, 2023 Category: Genetics & Stem Cells Authors: Yue Shen, Chao Lu, Tingting Cheng, Zongfu Cao, Cuixia Chen, Xu Ma, Huafang Gao and Minna Luo Tags: Research Source Type: research
A novel non-sense variant in the OFD1 gene caused Joubert syndrome
Conclusion: The genetic variation spectrum of JBS10 caused by OFD1 was broadened. The novel variants further deepened our insight into the molecular mechanism of the disease. (Source: Frontiers in Genetics)
Source: Frontiers in Genetics - January 10, 2023 Category: Genetics & Stem Cells Source Type: research
Suspected Autosomal Recessive Polycystic Kidney Disease but Cerebellar Vermis Hypoplasia, Oligophrenia Ataxia, Coloboma, and Hepatic Fibrosis (COACH) Syndrome in Retrospect, A Delayed Diagnosis Aided by Genotyping and Reverse Phenotyping: A Case Report and A Review of the Literature
We present a case of a young adult presenting late to a Renal Genetics Clinic for evaluation of renal cystic disease with congenital hepatic fibrosis, clinically suspected to have autosomal recessive polycystic kidney disease. Following genetic testing, a reevaluation of his medical records from infancy, together with reverse phenotyping and genetic phasing, led to a diagnosis of COACH syndrome.Nephron (Source: Nephron)
Source: Nephron - January 6, 2023 Category: Urology & Nephrology Source Type: research
[PERSPECTIVES] Retinal Degeneration Animal Models in Bardet-Biedl Syndrome and Related Ciliopathies
Retinal degeneration due to photoreceptor ciliary-related proteins dysfunction accounts for more than 25% of all inherited retinal dystrophies. The cilium, being an evolutionarily conserved and ubiquitous organelle implied in many cellular functions, can be investigated by way of many models from invertebrate models to nonhuman primates, all these models have massively contributed to the pathogenesis understanding of human ciliopathies. Taking the Bardet–Biedl syndrome (BBS) as an emblematic example as well as other related syndromic ciliopathies, the contribution of a wide range of models has enabled to characterize...
Source: Cold Spring Harbor perspectives in medicine - January 3, 2023 Category: Research Authors: Delvallee, C., Dollfus, H. Tags: Retinal Disorders: Genetic Approaches to Diagnosis and Treatment PERSPECTIVES Source Type: research
Compound heterozygous splicing variants in KIAA0586 cause fetal short ‐rib thoracic dysplasia and cerebellar malformation: Use of exome sequencing in prenatal diagnosis
ConclusionsHerein, we report the genetic pathogenesis of SRTD and/or JS associated withKIAA0586 in a fetus. The novel splicing variants observed expand the spectrum ofKIAA0586 in SRTD and/or JS. Based on the genetic data and the distinct corresponding phenotypes discovered by imaging examination, a comprehensive diagnosis was made during pregnancy and more valuable prognostic information was provided for the parents. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - December 21, 2022 Category: Genetics & Stem Cells Authors: Qianying Zhao,
Bocheng Xu,
Qinqin Xiang,
Yu Tan,
Hanbing Xie,
Qianqian Gao,
Lingyi Wen,
He Wang,
Mei Yang,
Shanling Liu Tags: CLINICAL REPORT Source Type: research
Generation of an iPSC line from skin fibroblasts of a patient with Joubert syndrome carrying the homozygous loss of function variant c.787dupC in the AHI1 gene
Stem Cell Res. 2022 Dec 9;66:103002. doi: 10.1016/j.scr.2022.103002. Online ahead of print.NO ABSTRACTPMID:36521382 | DOI:10.1016/j.scr.2022.103002 (Source: Cell Research)
Source: Cell Research - December 15, 2022 Category: Cytology Authors: V Serpieri A Orsi C Mazzotta S Cavan E Rossi B Scelsa E M Valente Source Type: research
GSE217001 Variable phenotypes and penetrance between and within different zebrafish transition zone mutants
Contributor : John M ParantSeries Type : Expression profiling by high throughput sequencingOrganism : Danio rerioMeckel Syndrome, Nephronophthisis, Joubert Syndrome, and Bardet-Biedl Syndrome have mutations in proteins that localize to the ciliary transition zone (TZ). The phenotypically distinct syndromes suggest these TZ proteins have differing functions. However, mutations in a single TZ gene can result in multiple syndromes suggesting the phenotype is influenced by modifier genes. We performed a comprehensive analysis of ten zebrafish TZ mutants including mks1, tmem216, tmem67, rpgrip1l, cc2d2a, b9d2, cep290, tctn1, np...
Source: GEO: Gene Expression Omnibus - November 30, 2022 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Danio rerio Source Type: research
Case report and a brief review: Analysis and challenges of prenatal imaging phenotypes and genotypes in Joubert syndrome
Prenatal imaging phenotypes and genotypes were analyzed in 13 cases prenatally diagnosed with Joubert syndrome (JS), all of which underwent magnetic resonance imaging (MRI), ultrasound, and genetic testing. Prenatal MRI diagnosed 10 cases as JS with a typical molar tooth sign (MTS), while prenatal ultrasound diagnosed or suspiciously diagnosed 11 cases as JS with typical or mild MTS in 10 cases. Mutations in JS-related genes and other prenatal JS imaging phenotypes were identified in 10 cases, including OFD1 in two cases [cerebellar vermis (CV) absence, posterior fossa dilation, ventriculomegaly, polydactyly, malformations...
Source: Frontiers in Genetics - November 18, 2022 Category: Genetics & Stem Cells Source Type: research
Development delay in a child with microcephaly and birth asphyxia: Explore diagnosis beyond hypotonic cerebral palsy
We describe a case of a 2-year-old female child who presented as emergency with acute gastroenteritis and severe dehydration. In this patient, there was a history of severe birth asphyxia, and the developmental milestones were delayed. The child was managed as hypotonic cerebral palsy elsewhere with antiepileptic drug and nutritional supplements. However, persistent abnormal pattern of breathing after adequate hydration and noncontributory metabolic profile raised the suspicion of alternate etiology. Later, the diagnosis of Joubert syndrome was established on contrast-enhanced magnetic resonance imaging of brain with findi...
Source: Journal of Pediatric Neurosciences - November 1, 2022 Category: Neuroscience Authors: Jasbir Singh Poonam Dalal Kamal Nain Rattan Source Type: research
Two Siblings Showing a Mild Phenotype of Joubert Syndrome with a Specific CEP290 Variant
This report indicates the expanding spectrum of the CEP290 variant. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abstract | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - August 28, 2022 Category: Neurology Authors: Uda, Daisuke Kondo, Hidehito Tanda, Koichi Kizaki, Zenro Nishida, Masashi Dai, Hongmei Itoh, Masayuki Tags: Short Communication Source Type: research
