Woodhouse-Sakati syndrome

Definition:

Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive disorder that encompasses alopecia, hypogonadism, diabetes mellitus, mental retardation, and extrapyramidal signs. Additional manifestations include sensorineural hearing loss, seizures, T-wave abnormalities on ECG, and polyneuropathy. The syndrome is caused by mutation of the C2orf37 gene encoding a nucleolar protein.

References:

[1]. A M Alazami, et al. C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients. Clin Genet. 2010 Dec;78(6):585-90. [Content Brief]

[2]. Anas M Alazami, et al. Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome. Am J Hum Genet. 2008 Dec;83(6):684-91. [Content Brief]

[3]. Tawfeg Ben-Omran, et al. Phenotypic heterogeneity in Woodhouse-Sakati syndrome: two new families with a mutation in the C2orf37 gene. Am J Med Genet A. 2011 Nov;155A(11):2647-53. [Content Brief]

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