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Novel MBTPS 2 missense mutation causes a keratosis follicularis spinulosa decalvans phenotype: mutation update and review of the literature
Author(s) -
Zhang J.,
Wang Y.,
Cheng R.,
Ni C.,
Liang J.,
Li M.,
Yao Z.
Publication year - 2016
Publication title -
clinical and experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.587
H-Index - 78
eISSN - 1365-2230
pISSN - 0307-6938
DOI - 10.1111/ced.12889
Subject(s) - missense mutation , sanger sequencing , phenotype , mutation , genetics , dermatology , biology , keratosis , dyskeratosis , genotype phenotype distinction , medicine , gene , hyperkeratosis
Summary Keratosis follicularis spinulosa decalvans ( KFSD ) is an X‐linked condition characterized by keratotic follicular papules and progressive alopecia, which is caused by mutations in the MBTPS 2 gene. We carried out a genetic study on a child who was suspected clinically to have KFSD . Sanger sequencing was performed to detect mutations in the entire coding region of MBTPS 2 . A novel missense mutation (c.599C>T) was identified in the patient, confirming a diagnosis of KFSD . We reviewed related cases with MBTPS 2 mutations for evidence of genotype–phenotype correlations.