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Novel MBTPS 2 Missense Mutation in the N‐Terminus Transmembrane Domain in a Patient with Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome
Author(s) -
Izumi Kosuke,
Wilkens Alisha,
Treat James R.,
Pride Howard B.,
Krantz Ian D.
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.12115
Subject(s) - photophobia , missense mutation , ichthyosis , medicine , genodermatosis , dermatology , congenital ichthyosis , proband , genetics , mutation , ophthalmology , biology , gene
Ichthyosis follicularis, alopecia, and photophobia ( IFAP ) syndrome is an X‐linked dominant condition characterized by the triad of ichthyosis follicularis, alopecia, and photophobia caused by mutations in the MBTPS 2 gene. Herein we describe a proband with IFAP syndrome with mild cutaneous manifestations and a novel MBTPS 2 mutation in the N‐terminal transmembrane domain.