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Case Reports
. 2024 Jan;194(1):100-102.
doi: 10.1002/ajmg.a.63405. Epub 2023 Sep 14.

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

S Deepak Amalnath  1 , Jothivanan  1 , Junko Oshima  2 , Jillian G Buchan  2 , Sarah Paolucci  2
Affiliations
Case Reports

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

S Deepak Amalnath et al. Am J Med Genet A. 2024 Jan.

Abstract

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.

Keywords: Indian; Woodhouse-Sakati syndrome; cardiac.

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Conflict of interest statement

CONFLICT OF INTEREST STATEMENT

The authors declare no conflict of interest.

Figures

FIGURE 1
FIGURE 1
Triangular face with narrow chin, broad nasal bridge, and lack of scalp and facial hair.
FIGURE 2
FIGURE 2
(a) ECG showing delta wave (circle). (b) CT brain showing calcification in basal ganglia (circle). (c, d) CT angiogram showing tortuous arteries from the aorta (arrow).
See this image and copyright information in PMC

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