Woodhouse-Sakati Syndrome Due to the Rare DCAF17 c.321+1G>A Mutation: The Second Case Report Worldwide
Zhahid H Baigh, Jibran A Sheikh, Baleekhudin Mohd O Dawar · 2026
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Description
Zhahid Baigh, Jibran Sheikh and Baleekhudin Dawar report a rare mutation behind Woodhouse-Sakati syndrome, in this 2026 case report. The syndrome is an inherited neuroendocrine disorder caused by faults in the DCAF17 gene. The splice-site variant found here had been reported only once before worldwide.
Their patient, a thirty-three-year-old Kashmiri woman, showed the classic pattern: hormone-driven gonadal failure, widespread hair loss, diabetes, distinctive facial features and intellectual disability. Whole-exome sequencing found the variant in both gene copies. Documenting such ultra-rare variants, the authors note, strengthens the map linking gene changes to clinical features and supports the variant's role in causing the disease.
Catalog record
| CREATOR | Zhahid H Baigh, Jibran A Sheikh, Baleekhudin Mohd O Dawar |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 15 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |