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

Frontiers in Genetics

Hui-Wen Yu¹  Peng-Chieh Chen¹  Tsunglin Liu²  Yen-Yin Chou³  Yuan-Yow Chiou³  Meng-Che Tsai⁴ 

[1] Center of Clinical Medicine, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan;Department of Biotechnology and Bioindustry Sciences, National Cheng Kung University, Tainan, Taiwan;Depatment of Pediatrics, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan;Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan;

关键词: Alström syndrome;    ALMS1 gene;    ciliopathy;    whole exome sequencing;    childhood obesity;    retinitis pigmentosa;   

DOI  :  10.3389/fgene.2018.00110

来源: DOAJ

【 摘 要 】

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 describe a Taiwanese patient presenting cone-rod dystrophy and early-onset obesity that progressed to diabetes mellitus with marked insulin resistance during adolescence. Whole exome sequencing of the patient's genomic DNA identified a novel frameshift mutation in exons 15 (c.10290_10291delTA, p.Lys3431Serfs*10) and a rare mutation in 16 (c.10823_10824delAG, p.Arg3609Alafs*6) of ALMS1 gene. The compound heterozygous mutations were predicted to render truncated proteins. This report highlighted the clinical utility of exome sequencing and extended the knowledge of mutation spectrum in AS patients.

【 授权许可】

Unknown