Woodhouse-Sakati Syndrome: The New Genetic Variant Of DCAF17 In Two Adult Sisters
July 2024
in “
JCEM Case Reports
”
Studysummary This report highlights a new genetic variant of Woodhouse-Sakati syndrome in two sisters from the first identified family case in Russia, emphasizing the varied manifestations of the disorder and the importance of genetic testing for diagnosis and patient-specific treatment planning. Our plain-language summary of this paper — not a Tressless recommendation.
Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive disorder characterized by symptoms such as progressive extrapyramidal signs, mental retardation, alopecia, and various endocrine deficiencies. This report highlights a new genetic variant of DCAF17 found in 2 adult sisters with WSS, marking the first such case identified in the Russian Federation. The sisters exhibit distinctive phenotypical features, contributing to the understanding of WSS's diverse manifestations. While no specific treatment exists, genetic testing aids in diagnosis, prognosis, and the development of comprehensive patient-oriented care.
