Premium
FOXN 1 Duplication and Congenital Hypertrichosis
Author(s) -
Gilhooley Eimear,
Gormally Siobhan,
Irvine Alan,
Lynch Sally Ann,
Collins Sinead
Publication year - 2017
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.13078
Subject(s) - hypertrichosis , gene duplication , medicine , transcription factor , genetics , gene , dermatology , biology
We report a case of congenital hypertrichosis and FOXN 1 duplication. FOXN 1 is a member of the forkhead box gene family, located on chromosome 17. Its function includes differentiation of epithelial cells and regulation of keratinocytes, especially hair keratins. Loss of function of these transcription factors leads to a disruption in hair growth. As far as we are aware, this is the first case of FOXN 1 duplication associated with congenital hypertrichosis to be reported in the literature.