1. Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene.
- Author
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Zhou M, Shi N, Zheng J, Chen Y, Wang S, Xiao K, Cui Z, Qiu K, Zhu F, and Li H
- Subjects
- Adult, China, Female, Humans, Male, Pedigree, Exome Sequencing, Alopecia genetics, Arrhythmias, Cardiac genetics, Basal Ganglia Diseases genetics, Diabetes Mellitus genetics, Hypogonadism genetics, Intellectual Disability genetics, Nuclear Proteins genetics, Sequence Deletion, Ubiquitin-Protein Ligase Complexes genetics
- 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., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2021 Zhou, Shi, Zheng, Chen, Wang, Xiao, Cui, Qiu, Zhu and Li.)
- Published
- 2021
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