Two patients with the V37I/235delC genotype: are radiographic cochlear anomalies part of the phenotype?
We present two East Asian patients with sensorineural hearing loss (SNHL) and compound heterozygosity for the 235delC and V37I mutations in the GJB2 gene. One patient has a unilaterally enlarged vestibular aqueduct, which underscores the importance of routine CT examination in children with SNHL, even if GJB2 (connexin 26) mutations have been identified. The second patient was not available for evaluation by CT. The pathogenic role of the V37I mutation has been controversial. We review the literature and present evidence in support of pathogenicity. Larger studies in compound heterozygous individuals and co-transfection studies will allow better genotype-phenotype correlations and prognostication.
Schrijver
Iris
I
Department of Pathology and Pediatrics, L235, Stanford University Medical Center, 300 Pasteur Drive, Stanford, CA 94305, USA. ischrijver@stanfordmed.org
Chang
Kay W
KW
D044466:Asian People / Q000235:genetics; D002648:Child; D003051:Cochlea / Q000002:abnormalities* / Q000000981:diagnostic imaging*; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D017353:Gene Deletion; D005838:Genotype; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation / Q000235:genetics; D010641:Phenotype; D011379:Prognosis; D011859:Radiography
D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26