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

Min Zhou; Ningjie Shi; Juan Zheng; Yang Chen; Siqi Wang; Kangli Xiao; Zhenhai Cui; Kangli Qiu; Feng Zhu; Huiqing Li

doi:10.3389/fendo.2021.770871

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

Authors

Zhou, Min^{1, 2}
Shi, Ningjie^{3, 4}
Zheng, Juan^{3, 4}
Chen, Yang^{3, 4}
Wang, Siqi^{3, 4}
Xiao, Kangli^{3, 4}
Cui, Zhenhai^{3, 4}
Qiu, Kangli^{3, 4}
Zhu, Feng^{5, 6}
Li, Huiqing^{3, 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.

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