An insertion mutation in HOXC13 underlies pure hair and nail ectodermal dysplasia with lacrimal duct obstruction

Abstract

Pure hair and nail ectodermal dysplasia (PHNED; MIM 602032, 614929, and 614931) is an autosomal recessive ED that is characterized by hypotrichosis and nail dystrophy only, without further ectodermal or non-ectodermal alterations. To date, homozygous mutations in three genes have been reported to cause PHNED: KRT85 (MIM 602767), encoding keratin, type II cuticular Hb5 like; KRT74 (MIM 608248), encoding keratin, type II cytoskeletal 74; and HOXC13 (MIM 142976), encoding Homeobox C13. Here, we studied the genetic basis of PHNED in an Iranian kindred, displaying double consanguinity (Fig. 1a-g).

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