A rare connexin 26 mutation in a patient with a forme fruste  of keratitis-ichthyosis-deafness (KID) syndrome.
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.
Neoh
Ching Yin
CY
National Skin Center, Institute of Medical Biology, 1 Mandalay Road, Singapore. mailcyneoh@yahoo.com.sg
Chen
Huijia
H
Ng
See Ket
SK
Lane
Ellen Birgitte
EB
Common
John Edmund Armourer
JE
D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D003638:Deafness / Q000235:genetics*; D006801:Humans; D007057:Ichthyosis / Q000235:genetics*; D007634:Keratitis / Q000235:genetics*; D008297:Male; D009154:Mutation; D013577:Syndrome; D055815:Young Adult
D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26