title: Novel MBTPS2 missense mutation in the N-terminus transmembrane domain in a patient with ichthyosis follicularis, alopecia, and photophobia syndrome.
abstract: 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 MBTPS2 gene. Herein we describe a proband with IFAP syndrome with mild cutaneous manifestations and a novel MBTPS2 mutation in the N-terminal transmembrane domain.
authors.affiliation: Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
authors.forename: Kosuke
authors.initials: K
authors.lastname: Izumi
authors.forename: Alisha
authors.initials: A
authors.lastname: Wilkens
authors.forename: James R
authors.initials: JR
authors.lastname: Treat
authors.forename: Howard B
authors.initials: HB
authors.lastname: Pride
authors.forename: Ian D
authors.initials: ID
authors.lastname: Krantz
mesh_terms: D000505:Alopecia / Q000235:genetics*; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D006801:Humans; D007057:Ichthyosis / Q000235:genetics*; D007223:Infant; D008297:Male; D008666:Metalloendopeptidases / Q000737:chemistry / Q000235:genetics*; D020125:Mutation, Missense; D020795:Photophobia / Q000235:genetics*; D017434:Protein Structure, Tertiary / Q000235:genetics
chemical_list: D008666:Metalloendopeptidases; C120654:MBTPS2 protein, human