The frequency of GJB2 and GJB6 mutations in the New York State newborn population: feasibility of genetic screening for hearing defects

In the US, approximately one in every 1000 children has hearing loss sufficiently severe to interfere with the acquisition of normal speech [Ann NY Acad Sci 630 (1991) 16]. The causes of non‐syndromic hearing loss (NSHL) are known to be heterogeneous, with genetic factors accounting for 50–75%[Am J...

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Bibliographic Details
Published in:Clinical genetics 2004-04, Vol.65 (4), p.338-342
Main Authors: Fitzgerald, T, Duva, S, Ostrer, H, Pass, K, Oddoux, C, Ruben, R, Caggana, M
Format: Article
Language:English
Subjects:
Biological and medical sciences
Connexin 26
Connexin 30
Connexins - genetics
deafness
DNA Mutational Analysis - methods
Feasibility Studies
Gene Frequency
General aspects. Genetic counseling
Genetic Testing - methods
GJB2
GJB6
Hearing Loss - genetics
Humans
Infant, Newborn
Medical genetics
Medical sciences
Mutation
Neonatal Screening - methods
New York - epidemiology
Nucleic Acid Hybridization
Oligonucleotide Array Sequence Analysis
Reproducibility of Results
Sequence Deletion
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Summary:In the US, approximately one in every 1000 children has hearing loss sufficiently severe to interfere with the acquisition of normal speech [Ann NY Acad Sci 630 (1991) 16]. The causes of non‐syndromic hearing loss (NSHL) are known to be heterogeneous, with genetic factors accounting for 50–75%[Am J Med Genet 46 (1993) 486]. Often individuals with NSHL thought to be caused by mutations in GJB2 have only one detectable mutant allele [Am J Hum Genet 62 (1998) 792, Hum Mol Genet 6 (12) (1997) 2173]. Another gene that has been identified as a possible cause of NSHL is GJB6 that codes for the gap junction protein, connexin 30. A consecutive series of anonymous newborn dried blood specimens (n = 2089) was tested for two GJB2 mutations: (i) 35delG, a pan‐ethnic mutation; and (ii) 167delT, a mutation more frequently found in individuals of Ashkenazi Jewish and Mediterranean descents. Mutation detection was validated using allele‐specific oligonucleotide hybridization in single wells. Once the positive samples had been identified, the samples were pooled and retested. All positives in the individual experiment were correctly identified in the pooled experiment. The same random set of anonymous newborn dried blood specimens plus some additional samples were tested (n = 2112) for the 342‐kb deletion in the GJB6 gene.
ISSN:0009-9163
1399-0004
DOI:10.1111/j.1399-0004.2004.00233.x