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 Exome Sequencing Identifies A Nonsense Variant in DAO Associated With Reduced Energy Expenditure in American Indians

2020 ◽  
Vol 105 (11) ◽  
Author(s):  
Paolo Piaggi ◽  
Çiğdem Köroğlu ◽  
Anup K Nair ◽  
Jeff Sutherland ◽  
Yunhua L Muller ◽  
...  
Keyword(s):  
Energy Expenditure ◽  
Exome Sequencing ◽  
American Indians ◽  
Genetic Variants ◽  
Stop Codon ◽  
Premature Stop Codon ◽  
Dopamine Synthesis ◽  
Acid Oxidase ◽  
Pima Indians ◽  
Amino Acid Oxidase

Abstract Background Obesity and energy expenditure (EE) are heritable and genetic variants influencing EE may contribute to the development of obesity. We sought to identify genetic variants that affect EE in American Indians, an ethnic group with high prevalence of obesity. Methods Whole-exome sequencing was performed in 373 healthy Pima Indians informative for 24-hour EE during energy balance. Genetic association analyses of all high-quality exonic variants (≥5 carriers) was performed, and those predicted to be damaging were prioritized. Results Rs752074397 introduces a premature stop codon (Cys264Ter) in DAO and demonstrated the strongest association for 24-hour EE, where the Ter allele associated with substantially lower 24-hour EE (mean lower by 268 kcal/d) and sleeping EE (by 135 kcal/d). The Ter allele has a frequency = 0.5% in Pima Indians, whereas is extremely rare in most other ethnic groups (frequency < 0.01%). In vitro functional analysis showed reduced protein levels for the truncated form of DAO consistent with increased protein degradation. DAO encodes D-amino acid oxidase, which is involved in dopamine synthesis which might explain its role in modulating EE. Conclusion Our results indicate that a nonsense mutation in DAO may influence EE in American Indians. Identification of variants that influence energy metabolism may lead to new pathways to treat human obesity. Clinical Trial Registration Number NCT00340132.

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 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.

271-OR: Whole-Exome Sequence Identifies Potentially Functional Rare Variants in Bardet-Biedl Syndrome (BBS) Genes that Associate with Obesity in American Indians

Diabetes ◽  
2019 ◽  
Vol 68 (Supplement 1) ◽  
pp. 271-OR
Author(s):  
SAMANTHA E. DAY ◽  
YUNHUA L. MULLER ◽  
SAYUKO KOBES ◽  
HYE IN KIM ◽  
CRISTOPHER V. VAN HOUT ◽  
...  
Keyword(s):  
American Indians ◽  
Rare Variants ◽  
Bardet Biedl Syndrome ◽  
Whole Exome ◽  
Exome Sequence

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 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
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