Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy

2018 ◽  
Vol 95 (2) ◽  
pp. 329-333 ◽  
Author(s):  
Cécile Méjécase ◽  
Aurélie Hummel ◽  
Saddek Mohand-Saïd ◽  
Camille Andrieu ◽  
Said El Shamieh ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Cone Dystrophy ◽  
Complex Phenotype ◽  
Whole Exome

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.

scholarly journals Whole exome sequencing in a patient with uniparental disomy of chromosome 2 and a complex phenotype

2012 ◽  
Vol 84 (3) ◽  
pp. 213-222 ◽  
Author(s):  
H Carmichael ◽  
Y Shen ◽  
TT Nguyen ◽  
JN Hirschhorn ◽  
A Dauber
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Uniparental Disomy ◽  
Chromosome 2 ◽  
Complex Phenotype ◽  
Whole Exome
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