Cochleosaccular dysplasia associated with a connexin 26 mutation in keratitis-ichthyosis-deafness syndrome.
OBJECTIVE
The objective of this study was to characterize the temporal bone phenotype associated with a mutation of GJB2 (encoding connexin 26).


METHODS
The authors conducted correlative clinical, molecular genetic, and postmortem histopathologic analysis.


METHODS
The study subject was a male infant with keratitis-ichthyosis-deafness (KID) syndrome. We performed a nucleotide sequence analysis of GJB2 and a histopathologic analysis of the temporal bones.


RESULTS
The subject was heterozygous for G45E, a previously reported KID syndrome mutation of GJB2. The primary inner ear abnormality was dysplasia of the cochlear and saccular neuroepithelium.


CONCLUSIONS
GJB2 mutations can cause deafness in KID syndrome, and possibly in other GJB2 mutant phenotypes, by disrupting cochlear differentiation.
Griffith
Andrew J
AJ
Section on Gene Structure and Function, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, USA.
Yang
Yandan
Y
Pryor
Shannon P
SP
Park
Hong-Joon
HJ
Jabs
Ethylin Wang
EW
Nadol
Joseph B
JB
Russell
Laura J
LJ
Wasserman
Daniel I
DI
Richard
Gabriele
G
Adams
Joe C
JC
Merchant
Saumil N
SN
D003051:Cochlea / Q000002:abnormalities*; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D003638:Deafness / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007057:Ichthyosis / Q000150:complications / Q000235:genetics*; D007231:Infant, Newborn; D007634:Keratitis / Q000150:complications / Q000235:genetics*; D008297:Male; D009154:Mutation; D012444:Saccule and Utricle / Q000002:abnormalities*; D013577:Syndrome; D013701:Temporal Bone / Q000002:abnormalities / Q000473:pathology
D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26