Rare Compound Heterozygous Frameshift Mutations in ALMS1 Gene Identified Through Exome Sequencing in a Taiwanese Patient With Alström Syndrome

Rare Compound Heterozygous Frameshift Mutations in ALMS1 Gene Identified Through Exome Sequencing in a Taiwanese Patient With Alström Syndrome

Alström syndrome (AS) is a rare autosomal recessive disorder that shares clinical features with other ciliopathy-related diseases. Genetic mutation analysis is often required in making differential diagnosis but usually costly in time and effort using conventional Sanger sequencing. Herein we descri...

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Bibliographic Details
Main Authors: Meng-Che Tsai, Hui-Wen Yu, Tsunglin Liu, Yen-Yin Chou, Yuan-Yow Chiou, Peng-Chieh Chen
Format: Article
Language:English
Published: Frontiers Media S.A. 2018-04-01
Series:Frontiers in Genetics
Subjects:
Alström syndrome
ALMS1 gene
ciliopathy
whole exome sequencing
childhood obesity
retinitis pigmentosa
Online Access:http://journal.frontiersin.org/article/10.3389/fgene.2018.00110/full

Internet

http://journal.frontiersin.org/article/10.3389/fgene.2018.00110/full

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