Affordable Access

Access to the full text

Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene

Authors
  • Zhou, Min1, 2
  • Shi, Ningjie3, 4
  • Zheng, Juan3, 4
  • Chen, Yang3, 4
  • Wang, Siqi3, 4
  • Xiao, Kangli3, 4
  • Cui, Zhenhai3, 4
  • Qiu, Kangli3, 4
  • Zhu, Feng5, 6
  • Li, Huiqing3, 4
  • 1 Department of Pulmonary and Critical Care Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan , (China)
  • 2 Key Laboratory of Respiratory Diseases, National Ministry of Health of the People’s Republic of China and National Clinical Research Center for Respiratory Disease, Wuhan , (China)
  • 3 Department of Endocrinology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan , (China)
  • 4 Hubei Provincial Clinical Research Center for Diabetes and Metabolic Disorders, Wuhan , (China)
  • 5 Clinic Center of Human Gene Research, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan , (China)
  • 6 Department of Cardiology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan , (China)
Type
Published Article
Journal
Frontiers in Endocrinology
Publisher
Frontiers Media SA
Publication Date
Dec 23, 2021
Volume
12
Identifiers
DOI: 10.3389/fendo.2021.770871
Source
Frontiers
Keywords
Disciplines
  • Endocrinology
  • Case Report
License
Green

Abstract

Woodhouse–Sakati syndrome (WSS) (OMIM#241080) is a rare multi-system autosomal recessive disease with homozygous mutation of the DCAF17 gene. The main features of WSS include diabetes, hypogonadism, alopecia, deafness, intellectual disability and progressive extrapyramidal syndrome. We identified a WSS family with a novel DCAF17 gene mutation type in China. Two unconsanguineous siblings from the Chinese Han family exhibiting signs and symptoms of Woodhouse-Sakati syndrome were presented for evaluation. Whole-exome sequencing revealed a homozygous deletion NM_025000.4:c.1488_1489delAG in the DCAF17 gene, which resulted in a frameshift mutation that led to stop codon formation. We found that the two patients exhibited low insulin and C-peptide release after glucose stimulation by insulin and C-peptide release tests. These findings indicate that the DCAF17 gene mutation may cause pancreatic β cell functional impairment and contribute to the development of diabetes.

Report this publication

Statistics

Seen <100 times