Genetic testing for deafness is here, but how do we do it?

Genetics in Medicine

Volumn 6, Issue 6, 2004, Pages 463-464

  Robin, Nathaniel H ^a  

^a UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 26;

ALLELE; AUTOSOMAL RECESSIVE DISORDER; CLEFT LIP; CLEFT PALATE; COCHLEA PROSTHESIS; DFNB1 GENE; EDITORIAL; GENE; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC PREDISPOSITION; GJB2 GENE; GJB6 GENE; HEARING AID; HEARING IMPAIRMENT; HEARING LOSS; HUMAN; LANGUAGE DEVELOPMENT; PROGNOSIS; RECURRENCE RISK; SLC26A4 GENE; WFS1 GENE;

DEAFNESS; GENETIC SCREENING; HUMANS; INFANT, NEWBORN;

EID: 9644289530     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.GIM.0000144186.09716.CF     Document Type: Editorial

References (14)

1. Schimmenti LA, Martinez A, Fox M, Crandall B, Shapiro N, Telatar M et al. Genetic testing as part of the early hearing detection and intervention process. Genet Med 2004;6:521-525.
2. Koehn D, Morgan K, Fraser FC. Recurrence risks for near relatives of children with sensori-neural deafness. Genet Couns 1990;1:127-132.
3. Hereditary hearing loss home page. Available at: http://www.uia.ac.be/ dnalab/hhh/ Accessed May 31, 2004.
4. Keisell DP, Dunlop J, Stevens HP, Lench NJ, Liang JN, Parry G et al. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nat Genet 1997;387:80-83.
5. Green GE, Scott DA, McDonald JM, Woodworth GG, Sheffield VC, Smith RJ. Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. JAMA 1999;281:2211-2216.
6. Del Castillo I, Villamar M, Moreno-Pelayo MA, Del Castillo FJ, Alvarez A, Telleria D et al. A deletion involving the connexin 30 gene in non-syndromic hearing impairment. N Engl J Med 2002;346:243-249.
7. Del Castillo I, Moreno-Pelayo MA, Del Castilio FJ, Brownstein Z, Marlin S, Adina Q et al. Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study. Am J Hum Genet 2003;73:1452-1458.
8. Prasad S, Cucci RA, Green GE, Smith RJ. Genetic testing for hereditary hearing loss: connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA). Hum Mut 2000;16:502-508.
9. Yoshaniga-Itano C, Apuzzo ML. Identification of hearing loss after age 18 months is not early enough. Am Ann Deaf, 1998;143:380-387.
10. American College of Medical Geneticists. Genetics evaluation guidelines for the etiologic diagnosis of congenital hearing loss: Genetic evaluation of congenital hearing loss expert panel. ACMG statement. Genet Med 2002;4:162-171.
11. Greinwald JH Jr, Hartnick CJ. The evaluation of children with sensorineural hearing loss. Arch Otolaryngol Head Neck Surg 2002;128:84-87.
12. Parving A, Stephans D. Profound permanent hearing impairment in childhood: causative factors in two European countries. Acta Otol 1997;117:158-160.
13. Green GE, Scott DA, McDonald JM, Teagle HF, Tomblin BJ, Spencer LJ et al. Performance of cochlear implant recipients with GJB2-related deafness. Am J Med Genet 2002;109:167-170.
14. Young JL, O'Riordan M, Goldstein JA, Robin NH. What information do parents of newborns with cleft lip, palate, or both want to know? Cleft Palate Craniofac J 2001;38:55-58.