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Alopecia and Hypotrichosis as Characteristic Findings in Woodhouse‐Sakati Syndrome: Report of a Family with Mutation in the C2orf37 Gene
Author(s) -
Nanda Arti,
Pasternack Sandra M.,
Mahmoudi Hassnaa,
Ishorst Nina,
Grimalt Ramon,
Betz Regina C.
Publication year - 2013
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.12219
Subject(s) - hypotrichosis , medicine , genetics , consanguinity , mutation , genotype , dermatology , pediatrics , gene , biology
Abstract W oodhouse‐ S akati syndrome ( WSS ) is a rare autosomal recessive disorder characterized by alopecia, hypogonadism, diabetes mellitus, intellectual disability, sensorineural deafness, extrapyramidal signs, and low insulinlike growth factor 1 levels. Inter‐ and intrafamilial phenotypic variability have been reported. Mutations in the C2orf37 gene cause WSS . The present report describes the clinical signs and symptoms of three affected siblings from a consanguineous B edouin family from K uwait. Direct sequencing of the C2orf37 gene revealed that the c.436delC (p.Ala147Hisfs*9) mutation was present in a homozygous state in all affected siblings and in a heterozygous state in the parents and a healthy sister. Nine C2orf37 mutations causing WSS have been identified. This family shared the mutation reported earlier in S audi families and families of B edouin tribes from Q atar and I srael. No phenotypic or genotypic correlation has been observed. Despite the great phenotypic variability of WSS , hypotrichosis has been observed in all individuals with WSS reported. This condition has not been reported in the dermatologic literature. WSS should be included in the differential diagnosis of syndromic congenital hypotrichosis.