부산대학교 도서관

Keratitis-ichthyosis-deafness (KID) syndrome (MIM: #148210) is a rare form of syndromic ichthyosis associated with heterozygous mutations in I GJB2 i encoding connexin 26, a member of the connexin family of transmembrane proteins, involved in cell-cell communication.[1] I GJB2 i mutations are also associated with non-syndromic deafness.[2] Mosaic I GJB2 i mutations were previously identified in porokeratotic eccrine ostial and dermal duct nevus (PEODDN).[3] Here, we report two patients with mosaic I GJB2 i mutations thus expanding the clinical spectrum of I GJB2 i -related disorders. Extending the phenotypic spectrum of keratitis-ichthyosis-deafness syndrome: report of a patient with GJB2 (G12R) Connexin 26 mutation and unusual clinical findings. [Extracted from the article]