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Novel Mutations of the ALMS1 Gene in Patients with Alström Syndrome

Authors
  • Wang, Chunmei
  • Luo, Xiaona
  • Wang, Yilin
  • Liu, Zhao
  • Wu, Shengnan
  • Wang, Simei
  • Lan, Xiaoping
  • Xu, Quanmei
  • Xu, Wuhen
  • Yuan, Fang
  • Wang, Anqi
  • Zeng, Fanyi
  • Jia, Jia
  • Chen, Yucai
Type
Published Article
Journal
Internal Medicine
Publisher
The Japanese Society of Internal Medicine
Publication Date
Jun 19, 2021
Volume
60
Issue
23
Pages
3721–3728
Identifiers
DOI: 10.2169/internalmedicine.6467-20
PMID: 34148947
PMCID: PMC8710367
Source
PubMed Central
Keywords
Disciplines
  • Original Article
License
Unknown

Abstract

Objective Alström syndrome is an autosomal recessive genetic disease caused by a mutation in the ALMS1 gene. Alström syndrome is clinically characterized by multisystem involvement, including sensorineural deafness, cone-rod dystrophy, nystagmus, obesity, insulin resistance, type 2 diabetes and hypogonadism. The diagnosis is thus challenging for patients without this characteristic set of clinical symptoms. We explored the effectiveness of whole-exome sequencing in the diagnosis of Alström syndrome. Methods A girl with symptoms of Alström syndrome was tested and diagnosed with the disease by whole-exome sequencing. Results Whole-exome sequencing revealed two novel variants, c.6160_6161insAT: p.Lys2054Asnfs*21(exon 8) and c.10823_10824 delAG:p.Glu 3608Alafs*9 (exon16) in the ALMS1 gene, leading to premature termination codons and the domain of ALMS1 protein. Blood sample testing of her asymptomatic parents revealed them to be heterozygous carriers of the same mutations. Assembly showed that the mutations on both alleles were located in conserved sequences. A review of the ALMS1 gene nonsense mutation status was performed. Conclusion We herein report two novel variants of the ALMS1 gene discovered in a Chinese Alström syndrome patient that expand the mutational spectrum of ALMS1 and provided new insight into the molecular mechanism underlying Alström syndrome. Our findings add to the current knowledge concerning the diagnosis and treatment of Alström syndrome.

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