scholarly journals Exome Sequencing of a Family with Bardet-Biedl Syndrome Identifies the Common Russian Mutation c.1967_1968delTAinsC in BBS7

2015 ◽  
Vol 6 (2) ◽  
pp. 96-98 ◽  
Author(s):  
Evgeny N. Suspitsin ◽  
Anna P. Sokolenko ◽  
Lydia V. Lyazina ◽  
Elena V. Preobrazhenskaya ◽  
Alla Y. Lepenchuk ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Bardet Biedl Syndrome ◽  
The Common

scholarly journals Exome Sequencing of 21 Bardet‐Biedl Syndrome (BBS) Genes to Identify Obesity Variants in 6,851 American Indians

Obesity ◽  
2021 ◽  
Author(s):  
Samantha E. Day ◽  
Yunhua L. Muller ◽  
Cigdem Koroglu ◽  
Sayuko Kobes ◽  
Kim Wiedrich ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
American Indians ◽  
Bardet Biedl Syndrome

scholarly journals A Novel BBS9 Mutation Identified via Whole-Exome Sequencing in a Chinese Family with Bardet-Biedl Syndrome

2021 ◽  
Vol 2021 ◽  
pp. 1-5
Author(s):  
Yue Zhang ◽  
Manhong Xu ◽  
Minglian Zhang ◽  
Guoxing Yang ◽  
Xiaorong Li
Keyword(s):  
Mental Retardation ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Sanger Sequencing ◽  
Chinese Family ◽  
Cone Dystrophy ◽  
Bardet Biedl Syndrome ◽  
Homozygous Variant ◽  
Whole Exome

Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder characterized by polydactyly, obesity, rod-cone dystrophy, and mental retardation. Twenty-one genes have been identified as causing BBS. This study collected a BBS pedigree from two patients and performed whole-exome sequencing on one patient. We identified a novel homozygous variant c.1114C>T (p.Q372X) in the BBS9 of the two siblings. This variant was confirmed and completely cosegregated with the disease of this family by Sanger sequencing. We report a novel homozygous variant c.1114C>T in the BBS9 gene in a Chinese family.

Exome sequencing identifies mutations inLZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet–Biedl syndrome with situs inversus and insertional polydactyly

2012 ◽  
Vol 49 (5) ◽  
pp. 317-321 ◽  
Author(s):  
Vincent Marion ◽  
Fanny Stutzmann ◽  
Marion Gérard ◽  
Charlie De Melo ◽  
Elise Schaefer ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Situs Inversus ◽  
Bardet Biedl Syndrome

Clinical and exome sequencing findings in seven children with Bardet–Biedl syndrome from Turkey

2020 ◽  
Vol 85 (1) ◽  
pp. 27-36
Author(s):  
Evren Gumus ◽  
Ebru Tuncez ◽  
Ozlem Oz ◽  
Merve Saka Guvenc
Keyword(s):  
Exome Sequencing ◽  
Bardet Biedl Syndrome

scholarly journals Novel splicing variant c. 208+2T>C in BBS5 segregates with Bardet–Biedl syndrome in an Iranian family by targeted exome sequencing

2019 ◽  
Vol 39 (3) ◽  
Author(s):  
Saber Imani ◽  
Jingliang Cheng ◽  
Jiewen Fu ◽  
Abdolkarim Mobasher-Jannat ◽  
Chunli Wei ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Fundus Photography ◽  
Biochemical Tests ◽  
Bardet Biedl Syndrome ◽  
Splicing Variant ◽  
Related Family ◽  
Iranian Family ◽  
Visual Acuity Testing ◽  
First Time ◽  
Splicing Site

AbstractBardet–Biedl syndrome (BBS) is a rare genetically heterogeneous ciliopathy which accompanies retinitis pigmentosa (RP). However, the BBS5 mutation remains unclear in Iranians with BBS. The purpose of study is to evaluate genetic analyses of a BBS Iranian family using targetted exome sequencing (TES). A male 11-year-old proband and three related family members were recruited. Biochemical tests, electrocardiography and visual acuity testing, such as funduscopic, fundus photography (FP), optical coherence tomography (OCT), and standard electroretinography, were conducted. Molecular analysis and high-throughput DNA sequence analysis were performed. The proband was diagnosed with possible BBS based on the presence of three primary features and two secondary features. The TES analysis of the proband with BBS resulted in the identification of a novel, homozygous splicing variant c. 208+2T>C of the BBS5 gene (NM_152384.2) in this Iranian BBS family. This variant was confirmed and was completely co-segregated with the disease in this family by Sanger sequencing. Thus, we report a novel, homozygous splicing site variant c.208+2T>C in the BBS5 gene for the first time in the Iranian family.

scholarly journals Whole Exome Sequencing detects PYGM variants in two adults with McArdle disease

2022 ◽  
pp. mcs.a006173
Author(s):  
Amanda Thomas-Wilson ◽  
Avinash V Dharmadhikari ◽  
Jonas J Heymann ◽  
Vaidehi Jobanputra ◽  
Salvatore DiMauro ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Storage Disease ◽  
Missense Variant ◽  
Glycogen Storage ◽  
Exercise Intolerance ◽  
Mcardle Disease ◽  
Whole Exome ◽  
History Of ◽  
In Trans ◽  
The Common

McArdle disease is a progressive and debilitating glycogen storage disease with typical onset in late childhood. Here we describe a former competitive athlete with early adult onset McArdle disease and a septuagenarian with a history of exercise-intolerance since adolescence who was evaluated for proximal muscle weakness. Exome sequencing identified bi-allelic variants in PYGM gene for both cases. The former athlete has the common, well-known pathogenic variant p.(Arg50Ter) in trans with a novel missense variant, p.(Asp694Glu). The second individual has a previously described homozygous missense variant, p.(Arg771Gln). Here, we describe the clinical course, enzyme-testing results using muscle tissue and molecular findings for the individuals, and add to the knowledge of the genotypic spectrum of this disorder.

scholarly journals Whole Exome Sequencing Identifies a Novel and a Recurrent Mutation inBBS2Gene in a Family with Bardet-Biedl Syndrome

2015 ◽  
Vol 2015 ◽  
pp. 1-5 ◽  
Author(s):  
Yong Mong Bee ◽  
Mayank Chawla ◽  
Yi Zhao
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Novel Mutation ◽  
Direct Sequencing ◽  
Autosomal Recessive Disorder ◽  
The Novel ◽  
Nonsense Mutations ◽  
Bardet Biedl Syndrome ◽  
Next Generation Sequencing Technology ◽  
Whole Exome

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder known to be caused by mutations in at least 19 BBS genes. We report the genetic analysis of a patient with indisputable features of BBS including cardinal features such as postaxial polydactyly, retinitis pigmentosa, obesity, and kidney failure. Taking advantage of next-generation sequencing technology, we applied whole exome sequencing (WES) with Sanger direct sequencing to the proband and her unaffected mother. A pair of heterozygous nonsense mutations inBBS2gene was identified in the proband, one being novel and the other recurrent. The novel mutation, p.Y644X, resides in exon 16 and was also found in the heterozygous state in the mother. This mutation is not currently found in the dsSNP and 1000 Genome SNP databases and is predicted to be disease causing byin silicoanalysis. This study highlights the potential for a rapid and precise detection of disease causing gene using WES in genetically heterogeneous disorders such as BBS.

scholarly journals Comprehensive Molecular Diagnosis of Bardet-Biedl Syndrome by High-Throughput Targeted Exome Sequencing

PLoS ONE ◽  
2014 ◽  
Vol 9 (3) ◽  
pp. e90599 ◽  
Author(s):  
Dong-Jun Xing ◽  
Hong-Xing Zhang ◽  
Na Huang ◽  
Kun-Chao Wu ◽  
Xiu-Feng Huang ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Molecular Diagnosis ◽  
High Throughput ◽  
Bardet Biedl Syndrome ◽  
Targeted Exome Sequencing

scholarly journals Exome sequencing of Bardet–Biedl syndrome patient identifies a null mutation in the BBSome subunitBBIP1(BBS18)

2013 ◽  
Vol 51 (2) ◽  
pp. 132-136 ◽  
Author(s):  
Sophie Scheidecker ◽  
Christelle Etard ◽  
Nathan W Pierce ◽  
Véronique Geoffroy ◽  
Elise Schaefer ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Null Mutation ◽  
Syndrome Patient ◽  
Bardet Biedl Syndrome
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