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See Latest ArticlesIchthyosis Follicularis, Alopecia, and Photophobia (IFAP) Syndrome Due to Mutation of the Gene MBTPS2 in a Large Australian Kindred
Pediatric Dermatology, 08/14/09
Ming A et al. – The authors present the largest kindred of IFAP reported to date in the medical literature clearly demonstrating X–linked inheritance. The gene defect has recently been mapped to Xp22.11–p22.13. Missense mutations of the gene, MBTPS2, which codes for an intramembrane zinc metalloprotease essential for cholesterol homeostasis and endoplasmic reticulum stress response, are associated with the IFAP phenotype in this kindred.
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