title: Neonatal detection of the 35delG mutation of the GJB2 gene in families at risk for deafness.
abstract: About half of congenitally deaf children that have a recessively inherited sensorineural deafness are born from normal-hearing parents and have no risk factor for hearing loss. Mutation 35delG in the connexin-26 gene is in European populations the basis for around half of all recessively inherited prelingual sensorineural deafness. The aim of our study was to assess the efficacy and utility of the 35delG mutation of the connexin-26 gene analysis for neonates at familial risk, from DNA isolated from Guthrie newborn screening cards. Newborns who had consanguineous parent and/or a familial history of deafness underwent connexin-26 gene analysis from DNA isolated from Guthrie cards and two hearing screening tests (transient evoked otoacoustic emissions, and auditory brainstem recordings). 24 newborns were includes in this pilot study; one of them is homozygous for the 35delG mutation and had abnormal hearing screening tests; all the others newborns had normal connexin gene and at least one normal hearing screening test. Detection on connexin-26 gene mutation is feasible in selected at-risk newborns on one additional blood spot on Guthrie card.
authors.affiliation: LCL Laboratory, Ivry-sur-Seine, France.
authors.forename: C
authors.initials: C
authors.lastname: Bathelier
authors.forename: M
authors.initials: M
authors.lastname: François
authors.forename: G
authors.initials: G
authors.lastname: Lucotte
mesh_terms: D003051:Cochlea / Q000503:physiopathology; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D003638:Deafness / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology; D016057:Evoked Potentials, Auditory, Brain Stem / Q000502:physiology; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D015997:Neonatal Screening; D017084:Otoacoustic Emissions, Spontaneous / Q000502:physiology; D017354:Point Mutation / Q000235:genetics*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D011446:Prospective Studies; D012307:Risk Factors
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26