Frontiers in Endocrinology (Dec 2021)

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

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

DOI
https://doi.org/10.3389/fendo.2021.770871
Journal volume & issue
Vol. 12

Abstract

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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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