Novel   MBTPS 2  missense mutation causes a keratosis follicularis spinulosa decalvans phenotype: mutation update and review of the literature | Zendy

Zhang J. | Zendy; Wang Y. | Zendy; Cheng R. | Zendy; Ni C. | Zendy; Liang J. | Zendy; Li M. | Zendy; Yao Z. | Zendy

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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.

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