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

In a case report, a novel biallelic deletion mutation in the DCAF17 gene was identified in two siblings from a Chinese Han family, who exhibited symptoms of Woodhouse-Sakati syndrome (WSS), a rare autosomal recessive disease. The mutation, NM_025000.4:c.1488_1489delAG, is a frameshift mutation leading to a premature stop codon. The study demonstrated that this mutation may impair pancreatic β cell function, as evidenced by low insulin and C-peptide release after glucose stimulation in the affected individuals, contributing to the development of diabetes, which is one of the main features of WSS along with hypogonadism, alopecia, deafness, intellectual disability, and progressive extrapyramidal syndrome.