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A novel TRPS 1 mutation in a family with tricho‐rhino‐phalangeal syndrome type 1
Author(s) -
Fujisawa Tomomi,
Fukao Toshiyuki,
Shimomura Yutaka,
Seishima Mariko
Publication year - 2014
Publication title -
the journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.9
H-Index - 65
eISSN - 1346-8138
pISSN - 0385-2407
DOI - 10.1111/1346-8138.12511
Subject(s) - scalp , craniofacial , wild type , medicine , missense mutation , endocrinology , mutant , stat protein , biology , mutation , anatomy , gene , genetics , stat3
Tricho‐rhino‐phalangeal syndrome ( TRPS ) is an autosomal‐dominant disease characterized by sparse and slow‐growing scalp hair and craniofacial and skeletal abnormalities. We report here the case of two girls and their father who had TRPS type 1 and received a diagnosis of a new mutation of TRPS 1 based on their clinical symptoms. Moreover, histological studies on skin samples obtained from one of the patients showed enhanced signal transducers and activator of transcription ( STAT ) 3 expression in the outer root sheath. However, TRPS 1 protein expression was not reduced in the patient's follicles. These findings indicate that truncated TRPS 1 protein from the mutant allele may be stably expressed in the patient's follicles and that enhanced STAT 3 expression may be involved in the development of sparse and thin scalp hair in TRPS .