Compound heterozygosity for dominant and recessive GJB2 mutations in a Tunisian family and association with successful cochlear implant outcome

International Journal of Pediatric Otorhinolaryngology

Volumn 77, Issue 9, 2013, Pages 1481-1484

  Riahi, Zied ^a,c   Zainine, Rim ^b   Mellouli, Yosra ^b   Hannachi, Raja ^b   Bouyacoub, Yosra ^a   Laroussi, Nadia ^a,c   Beltaief, Najeh ^b   Kefi, Rym ^a   Romdhane, Lilia ^a   Bonnet, Crystel ^d   Abdelhak, Sonia ^a   Besbes, Ghazi ^b  

^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; Dominant; GJB2; Hearing loss; Penetrance; Tunisia

Indexed keywords

ADENINE; ARGININE; CONNEXIN 26; GUANINE; VALINE;

ARTICLE; AUDITORY DISCRIMINATION; CASE REPORT; CHILD; COCHLEA PROSTHESIS; DOMINANT INHERITANCE; ETHNIC GROUP; FAMILY STUDY; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC SCREENING; GJB2 GENE; HETEROZYGOSITY; HETEROZYGOTE; HUMAN; IMPLANTATION; LANGUAGE ABILITY; MUTATIONAL ANALYSIS; OUTCOME ASSESSMENT; PERCEPTION DEAFNESS; POSTOPERATIVE PERIOD; PRESCHOOL CHILD; PRIORITY JOURNAL; RECESSIVE INHERITANCE; TUNISIAN;

COCHLEAR IMPLANT; DOMINANT; GJB2; HEARING LOSS; PENETRANCE; TUNISIA;

AUDIOMETRY; CHILD, PRESCHOOL; COCHLEAR IMPLANTATION; COCHLEAR IMPLANTS; CONNEXINS; DEAFNESS; FEMALE; FOLLOW-UP STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HEARING LOSS, SENSORINEURAL; HETEROZYGOTE; HETEROZYGOTE DETECTION; HUMANS; POINT MUTATION; POLYMERASE CHAIN REACTION; TREATMENT OUTCOME; TUNISIA;

EID: 84882688713     PISSN: 01655876     EISSN: 18728464     Source Type: Journal    
DOI: 10.1016/j.ijporl.2013.06.013     Document Type: Article

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