Rao Swathi Sunil, Shenoy Rathika D, Salian Smrithi, Girisha Katta M
Department of Pediatrics, K S Hegde Medical Academy, Nitte University, Mangalore, Karnataka, India.
Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India.
Indian J Dermatol. 2016 Nov-Dec;61(6):700. doi: 10.4103/0019-5154.193712.
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 mutation p.E300* in exon 10 of gene with mosaicism, earlier reported in a female of Thai origin. This is the first report of this mutation from the Indian subcontinent.
局灶性真皮发育不全是一种罕见的以X连锁显性方式遗传的疾病，通常在男性中为产前致死性。我们报告了一名存活的男性，其基因第10外显子存在合子后突变p.E300*且有嵌合体现象，该突变先前曾在一名泰国裔女性中报道过。这是来自印度次大陆关于此突变的首次报告。
