Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family

Abstract

Woodhouse-Sakati syndrome (WSS, MIM 241080) is a rare neuroendocrine disease characterized by hair loss, hypogonadism, diabetes, hearing loss, and extrapyramidal syndrome, and is usually caused by mutations in the DCAF17 gene as an inherited disease. DCAF17 plays an important role in mammalian gonadal development and infertility. So far, there have been no WSS reports in China. The patient introduced in this case is from a consanguineous family. The main symptoms of the patient were alopecia and gonadal agenesis. Other symptoms such as hearing loss, intellectual disability, and hyperglycemia were remarkable, and these symptoms are often observed in WSS patients. We found a nonsense mutation in the 11th exon of the gene DCAF17 (Refseq: NM_025000) in the patient and her younger brother, which confirmed the diagnosis of WSS. The genetic results also showed that the mutation was inherited from their healthy first-cousin parents.

Genetic epidemiology of Woodhouse-Sakati Syndrome in the Greater Middle East region and beyond: a systematic review

“…This is a single base pair frameshift deletion affecting both gene transcripts to produce a truncated protein of 96 amino acids [ 24 ]. In addition, a deletion mutation (c.1488_1489delAG) and a nonsense mutation (c.1111delA) were reported in Chinese WSS patients, leading to the formation of a premature stop codon and thus predicted to form a truncated protein [ 3 , 32 ]. Another exonic variant was also reported in India (c.1238delA), which results in a frameshift variant in exon 12, which is predicted to cause premature protein truncation [ 34 ].…”