A novel frameshift mutation (c.405delC) in the GJB2 gene associated with autosomal recessive hearing loss in two Tunisian families

International Journal of Pediatric Otorhinolaryngology

Volumn 77, Issue 9, 2013, Pages 1485-1488

  Riahi, Zied ^a,c   Chahed, Houda ^b   Jaafoura, Habib ^b   Zainine, Rim ^b   Messaoud, Olfa ^a   Naili, Mohamed ^b   Nagara, Majdi ^a,c   Hammami, Hassan ^b   Laroussi, Nadia ^a,c   Bouyacoub, Yosra ^a   Kefi, Rym ^a   Bonnet, Crystel ^d   Besbes, Ghazi ^b   Abdelhak, Sonia ^a  

^a PASTEUR INSTITUTE OF TUNIS   (Tunisia)

^b LA RABTA HOSPITAL   (Tunisia)

^c FACULTÉ DES SCIENCES DE TUNIS   (Tunisia)

^d Institut Pasteur   (France)

Author keywords

Cochlear implant; GJB2; Hearing loss; Mutation; Novel; Tunisia

Indexed keywords

CYTOSINE; DNA; RNA; THYMINE; TYROSINE;

ALLELE; ARTICLE; AUDIOLOGY; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; COCHLEA PROSTHESIS; CODON; DNA POLYMORPHISM; FEMALE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE FREQUENCY; GENE SEQUENCE; GENETIC ASSOCIATION; GJB2 GENE; HEARING IMPAIRMENT; HETEROZYGOSITY; HUMAN; INTRON; LANGUAGE ABILITY; MUTATIONAL ANALYSIS; PATHOPHYSIOLOGY; PRESCHOOL CHILD; PRIORITY JOURNAL; RNA TRANSLATION; SEQUENCE ANALYSIS; TUNISIA;

COCHLEAR IMPLANT; GJB2; HEARING LOSS; MUTATION; NOVEL; TUNISIA;

ADULT; CHILD, PRESCHOOL; COCHLEAR IMPLANTATION; COCHLEAR IMPLANTS; CONNEXINS; DEAFNESS; DNA MUTATIONAL ANALYSIS; EVOKED POTENTIALS, AUDITORY, BRAIN STEM; FEMALE; FOLLOW-UP STUDIES; FRAMESHIFT MUTATION; GENES, RECESSIVE; GENETIC TESTING; GENOTYPE; HEARING LOSS, SENSORINEURAL; HETEROZYGOTE; HUMANS; INCIDENCE; INFANT; INFANT, NEWBORN; MALE; PEDIGREE; POLYMERASE CHAIN REACTION; RISK ASSESSMENT; SAMPLING STUDIES; TREATMENT OUTCOME; TUNISIA;

EID: 84882623983     PISSN: 01655876     EISSN: 18728464     Source Type: Journal    
DOI: 10.1016/j.ijporl.2013.06.015     Document Type: Article

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