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A rare connexin 26 mutation in a patient with a forme fruste of keratitis–ichthyosis–deafness (KID) syndrome
Author(s) -
Neoh Ching Yin,
Chen Huijia,
Ng See Ket,
Lane Ellen Birgitte,
Common John Edmund Armourer
Publication year - 2009
Publication title -
international journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.677
H-Index - 93
eISSN - 1365-4632
pISSN - 0011-9059
DOI - 10.1111/j.1365-4632.2009.04136.x
Subject(s) - medicine , sensorineural hearing loss , ichthyosis , hearing loss , dermatology , keratitis , mutation , genetics , gene , audiology , biology
Abstract Background Keratitis–ichthyosis–deafness (KID) syndrome is a rare ectodermal dysplasia characterized by generalized erythrokeratotic plaques, sensorineural hearing loss, and vascularizing keratitis. Cutaneous changes and hearing loss typically present in early childhood, whereas ocular symptoms present later. Mutations in the connexin (Cx) 26 gene, GJB2 , are now established to underlie many of the affected cases, with the majority of patients harboring the p.D50N mutation. Methods A rare patient demonstrating features of incomplete KID syndrome associated with an uncommon Cx26 gene mutation is described. Results The patient presented late in adolescence with partial features of KID syndrome. There was limited cutaneous involvement and the rare association of cystic acne. Both hearing impairment and ophthalmic involvement were mild in severity. Genetic mutation analysis revealed a previously described, rare mutation in GJB2 , resulting in a glycine to arginine change at codon 12 (p.G12R). Conclusions This report describes a patient exhibiting characteristics suggestive of a late‐onset, incomplete form of KID syndrome with the GJB2 mutation (p.G12R). The p.G12R mutation has only been described in one other patient with KID syndrome, whose clinical presentation was not characterized.