Woodhouse-Sakati syndrome in an Indian patient with a novel pathogenic variant.

Autor: Amalnath SD; Department of Medicine, Jawaharlal Institute of Postgraduate Medical Education & Research (JIPMER), India., Jothivanan; Department of Medicine, Jawaharlal Institute of Postgraduate Medical Education & Research (JIPMER), India., Oshima J; Department of Laboratory Medicine & Pathology, University of Washington, Seattle, Washington, USA., Buchan JG; Department of Laboratory Medicine & Pathology, University of Washington, Seattle, Washington, USA., Paolucci S; Department of Laboratory Medicine & Pathology, University of Washington, Seattle, Washington, USA.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jan; Vol. 194 (1), pp. 100-102. Date of Electronic Publication: 2023 Sep 14.
DOI: 10.1002/ajmg.a.63405
Abstrakt: Woodhouse-Sakati syndrome consists of hypogonadism, diabetes mellitus, alopecia, ECG abnormalities, and dystonia. This condition is caused by the loss of function of the DCAF17 gene. Most of the patients have been reported from Greater Middle Eastern countries. We report a 38 male from southern India who presented with syncope and massive hemoptysis due to ruptured bronchopulmonary collaterals. He also had alopecia, cataracts, recently diagnosed diabetes and hypogonadism. Whole exome sequencing showed a novel homozygous truncating variant in the DCAF17 gene. Despite embolization of the aortopulmonary collaterals, the patient died of recurrent hemoptysis.
(© 2023 Wiley Periodicals LLC.)
Databáze: MEDLINE
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