Genetic testing as part of the Early Hearing Detection and Intervention (EHDI) process

Genetics in Medicine

Volumn 6, Issue 6, 2004, Pages 521-525

  Schimmenti, Lisa A ^a   Martinez, Ariadna ^b   Fox, Michelle ^c   Crandall, Barbara ^c   Shapiro, Nina ^c   Telatar, Milhan ^c   Sininger, Yvonne ^c   Grody, Wayne W ^c   Palmer, Christina G S ^b  

^a UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EARLY DIAGNOSIS; EARLY HEARING DETECTION AND INTERVENTION PROCESS; FOLLOW UP; GENE; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC COUNSELING; GJB2 GENE; GJB6 GENE; HEALTH PROGRAM; HEALTH SURVEY; HEARING LOSS; HUMAN; LONG QT SYNDROME; MEDICAL SPECIALIST; NOTE; PENDRED SYNDROME; PHENOTYPE; RETINITIS PIGMENTOSA; SCREENING TEST; USHER SYNDROME;

GENETIC SCREENING; GENETIC SERVICES; HEARING LOSS; HEARING TESTS; HUMANS; INFANT, NEWBORN; NEONATAL SCREENING;

EID: 9644255883     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.GIM.0000144187.21727.28     Document Type: Note

References (40)

1. Infants tested for hearing loss-United States, 1999-2001. MMWK Morb Mortal Wkly Rep 2003;52:981-984.
2. Yoshinaga-Itano C, Apuzzo ML. Identification of hearing loss after age 18 months is not early enough. Am Ann Deaf 1998;143:380-387.
3. Moeller MP. Early intervention and language development in children who are deaf and hard of hearing. Pediatrics 2000;106:E43.
4. Hayes D. Newborn hearing screening: selected experience in the United States. Scand Audiol Suppl 2001:29-32.
5. Resendes BL, Williamson RE, Morton CC. At the speed of sound: gene discovery in the auditory system. Am J Hum Genet 2001;69:923-935.
6. Kenneson A, Van Naarden Braun K, Boyle C. GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review. Genet Med 2002;4:258-274.
7. 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 nonsyndromic hearing impairment. N Engl J Med 2002;346:243-249.
8. Del Castillo I, Moreno-Pelayo MA, Del Castillo FJ, Brownstein Z, Marlin S, Adina Q et al. Prevalence and Evolutionary Origins of the del(GJBS-D13S1830) Mutation in the DFNB1 Locus in Hearing-Impaired Subjects: a Multicenter Study. Am J Hum Genet 2003;73:1452-1458.
9. Lerer I, Sagi M, Ben-Neriah Z, Wang T, Levi H, Abeliovich D. A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews. Hum Mutat 2001;18:460.
10. 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 Mutat 2000;16:502-508.
11. Palmer CGS, Martinez A, Fox M, Crandall B, Shapiro N, Telatar M et al. Genetic Testing and the Early Hearing Detection and Intervention Process. Volta Review 2003;103:371-390.
12. Brunger JW, Murray GS, O'Riordan M, Matthews AL, Smith RJ, Robin NH. Parental attitudes toward genetic testing for pediatric deafness. Am J Hum Genet 2000;67: 1621-1625.
13. Martinez A, Linden J, Schimmenti LA, Palmer CG. Attitudes of the broader hearing, deaf, and hard-of-hearing community toward genetic testing for deafness. Genet Med 2003;5:106-112.
14. Kelsell DP, Dunlop J, Stevens HP, Lench NJ, Liang JN, Parry G, et al. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature 1997;387:80-83.
15. Rabionet R, Zelante L, Lopez-Bigas N, D'Agruma L, Melchionda S, Restagno G et al. Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene. Hum Genet 2000;106:40-44.
16. Lerer I, Sagi M, Malamud E, Levi H, Raas-Rothschild A, Abeliovich D. Contribution of connexin 26 mutations to nonsyndromic deafness in Ashkenazi patients and the variable phenotypic effect of the mutation 167delT. Am J Med Genet 2000;95:53-56.
17. Lucotte G, Bathelier C, Champenois T. PCR test for diagnosis of the common GJB2 (connexin 26) 35delG mutation on dried blood spots and determination of the carrier frequency in France. Mol Cell Probes 2001;15:57-59.
18. Casademont I, Chevrier D, Denoyelle F, Petit C, Guesdon JL. A simple and reliable method for the detection of the 30delG mutation of the CX26 gene. Mol Cell Probes 2000;14:149-152.
19. Fitzgerald T, Duva S, Ostrer H, Pass K, Oddoux C, Ruben R, Caggana M. The frequency of GJB2 and GJB6 mutations in the New York State newborn population: feasibility of genetic screening for hearing defects. Clin Genet 2004;65:338-342.
20. Cohn ES, Kelley PM. Clinical phenotype and mutations in connexin 26 (DFNB1/GJB2), the most common cause of childhood hearing loss. Am J Med Genet 1999; 89:130-136.
21. Cryns K, Orzan E, Murgia A, Huygen PL, Moreno F, del Castillo I, et al. A genotype-phenotype correlation for GJB2 (connexin 26) deafness. J Med Genet 2004;41:147-154.
22. Green GE, Smith RJ, Bent JP, Cohn ES. Genetic testing to identify deaf newborns. JAMA 2000;284:1245.
23. Kenna MA, Wu BL, Cotanche DA, Korf BR, Rehm HL. Connexin 26 Studies in Patients With Sensorineural Hearing Loss. Arch Otolaryngol Head Neck Surg 2001; 127:1037-1042.
24. Gorlin R, Toriello H, Cohen Jr. MC. Hereditary Hearing Loss and its Syndromes: Oxford, University Press, New York; 1995.
25. Dent KM, Kenneson A, Palumbos JC, Maxwell S, Eichwald J, White K et al. Methodology of a multistate study of congenital hearing loss: preliminary data from Utah newborn screening. Am J Med Genet 2004;125C:28-34.
26. McCabe ER, Huang SZ, Seltzer WK, Law ML. DNA microextraction from dried blood spots on filter paper blotters: potential applications to newborn screening. Hum Genet 1987;75:213-216.
27. McCabe ER. Utility of PCR for DNA analysis from dried blood spots on filter paper blotters. PCR Methods Appl 1991;1:99-106.
28. Billings KR, Kenna MA. Causes of pediatric sensorineural hearing loss: yesterday and today. Arch Otolaryngol Head Neck Surg 1999;125:517-521.
29. American College of Medical Genetics. 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.
30. 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.
31. Bauer PW, Geers AE, Brenner C, Moog JS, Smith RJ. The effect of GJB2 allele variants on performance after cochlear implantation. Laryngoscope 2003;113:2135-2140.
32. 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.
33. Robin NH, Dietz C, Arnold JE, Smith RJ. Pediatric otolaryngologists' knowledge and understanding of genetic testing for deafness. Arch Otolaryngol Head Neck Surg 2001;127:937-940.
34. Hayflick SJ, Eiff MP, Carpenter L, Steinberger J. Primary care physicians' utilization and perceptions of genetics services. Genet Med 1998;1:13-21.
35. Palmer CGS, Martinez A, Fox M, Crandall B, Shapiro N, Telatar M et al. Parental attitudes toward genetic testing in their infants with hearing loss. In: Program and Abstracts: Grandori F, Hayes D, editors. The International Conference on Newborn Hearing Screening: Diagnosis and Intervention; 2004; Cernobbio, Italy: Institute of Biomedical Engineering, CNR: 2004:156.
36. Schimmenti LA, Martinez A, Fox M, Crandall B, Shapiro N, Telatar M et al. Perceived personal control as an outcome measure of genetic testing for hearing loss. In: Program and Book of Abstracts, Grandori F, Hayes D, editors. The International Conference on Newborn Hearing Screening: Diagnosis and Intervention; 2004; Cernobbio, Italy: Institute of Biomedical Engineering, CNR; 2004:133.
37. Mandl KD, Feit S, Larson C, Kohane IS. Newborn screening program practices in the United States: notification, research, and consent. Pediatrics 2002;109:269-273.
38. Centers for Disease Control, 2004. Available at http://www.cdc.gov/nchs/ fastats/births.htm. Accessed October 18, 2004.
39. Vohr B. Overview: Infants and children with hearing loss, part I. Ment Retard Dev Disabil Res Rev 2003;9:62-64.
40. White KR. The current status of EHDI programs in the United States. Ment Retard Dev Disabil Res Rev 2003;9:79-88.