Open AccessFocal dermal hypoplasia with a de novo mutation p.e300FNx01 of porcn gene in a male infant
Author(s) -
Shama Rao,
Rathika D. Shenoy,
Smrithi Salian,
Philippe M. Campeau
Publication year - 2016
Publication title -
indian journal of dermatology/indian journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.395
H-Index - 36
eISSN - 1998-3611
pISSN - 0019-5154
DOI - 10.4103/0019-5154.193712
Subject(s) - exon , medicine , mutation , hypoplasia , genetics , indian subcontinent , gene , biology , anatomy , history , ancient history
Focal dermal hypoplasia is a rare disorder inherited in an X-linked dominant pattern and is usually antenatally lethal in males. We report a surviving male with postzygotic de novo mutation p.E300FNx01 in exon 10 of PORCN gene with mosaicism, earlier reported in a female of Thai origin. This is the first report of this mutation from the Indian subcontinent