Genotype-phenotype correlation of two prevalent GJB2 mutations in chinese newborn infants ascertained from the Universal Newborn Hearing Screening Program

American Journal of Medical Genetics, Part A

Volumn 152, Issue 11, 2010, Pages 2912-2915

  Ma, Yan ^a,b   Yang, Tao ^a,b   Li, Yun ^a,b   Tao, Zheng ^b   Huang, Zhiwu ^a,b   Li, Xiaohua ^a,b   Chai, Yongchuan ^a,b   Ouyang, Zhiguo ^a,b   Shen, Xiaoming ^c   Wu, Hao ^a,b  

^a Department of Otolaryngology Head and Neck Surgery ^*  (China)

^b SHANGHAI JIAO TONG UNIVERSITY   (China)

^c SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 26;

AUTOSOMAL RECESSIVE INHERITANCE; CHINESE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HEARING LOSS; HUMAN; LETTER; MAJOR CLINICAL STUDY; NEWBORN; NEWBORN SCREENING; OTOACOUSTIC EMISSION; PREVALENCE; PRIORITY JOURNAL; SCREENING TEST;

ASIAN CONTINENTAL ANCESTRY GROUP; AUDITORY THRESHOLD; CHINA; CONNEXINS; GENETIC ASSOCIATION STUDIES; GENOTYPE; HEARING; HEARING LOSS; HUMANS; INFANT, NEWBORN; MUTATION; NEONATAL SCREENING;

EID: 78049315034     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33698     Document Type: Letter

References (15)

1. Bagatto M, Moodie S, Scollie S, Seewald R, Moodie S, Pumford J, Liu KP. 2005. Clinical protocols for hearing instrument fitting in the desired sensation level method. Trends Amplif 9: 199-226.
2. Bailey HD, Bower C, Krishnaswamy J, Coates HL. 2002. Newborn hearing screening in Western Australia. Med J Aust 177: 180-185.
3. Cryns K, Orzan E, Murgia A, Huygen PL, Moreno F, del Castillo I, Chamberlin GP, Azaiez H, Prasad S, Cucci RA, Leonardi E, Snoeckx RL, Govaerts PJ, Van de Heyning PH, Van de Heyning CM, Smith RJ, Van Camp G. 2004. A genotype-phenotype correlation for GJB2 (connexin 26) deafness. J Med Genet 41: 147-154.
4. Dai P, Yu F, Han B, Liu X, Wang G, Li Q, Yuan Y, Liu X, Huang D, Kang D, Zhang X, Yuan H, Yao K, Hao J, He J, He Y, Wang Y, Ye Q, Yu Y, Lin H, Liu L, Deng W, Zhu X, You Y, Cui J, Hou N, Xu X, Zhang J, Tang L, Song R, Lin Y, Sun S, Zhang R, Wu H, Ma Y, Zhu S, Wu BL, Han D, Wong LJ. 2009. GJB2 mutation spectrum in 2, 063 Chinese patients with nonsyndromic hearing impairment. J Transl Med 7: 26.
5. Gopalarao D, Kimberling WJ, Jesteadt W, Kelley PM, Beauchaine KL, Cohn ES. 2008. Is hearing loss due to mutations in the Connexin 26 gene progressive? Int J Audiol 47: 11-20.
6. Gorga MP, Kaminski JR, Beauchaine KL, Bergman BM. 1993. A comparison of auditory brain stem response thresholds and latencies elicited by air- and bone-conducted stimuli. Ear Hear 14: 85-94.
7. Green GE, Scott DA, McDonald JM, Woodworth GG, Sheffield VC, Smith RJ. 1999. Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. JAMA 281: 2211-2216.
8. Grimberg J, Nawoschik S, Belluscio L, McKee R, Turck A, Eisenberg A. 1989. A simple and efficient non-organic procedure for the isolation of genomic DNA from blood. Nucleic Acids Res 17: 8390.
9. Kelley PM, Harris DJ, Comer BC, Askew JW, Fowler T, Smith SD, Kimberling WJ. 1998. Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. Am J Hum Genet 62: 792-799.
10. Kenneson A, Van Naarden Braun K, Boyle C. 2002. GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: A HuGE review. Genet Med 4: 258-274.
11. Kokotas H, Theodosiou M, Korres G, Grigoriadou M, Ferekidou E, Giannoulia-Karantana A, Petersen MB, Korres S. 2008. Sudden hearing loss in a family with GJB2 related progressive deafness. Int J Pediatr Otorhinolaryngol 72: 1735-1740.
12. Mehl AL, Thomson V. 2002. The Colorado newborn hearing screening project, 1992-1999: On the threshold of effective population-based universal newborn hearing screening. Pediatrics 109: E7.
13. Pollak A, Skorka A, Mueller-Malesinska M, Kostrzewa G, Kisiel B, Waligora J, Krajewski P, Oldak M, Korniszewski L, Skarzynski H, Ploski R. 2007. M34T and V37I mutations in GJB2 associated hearing impairment: Evidence for pathogenicity and reduced penetrance. Am J Med Genet Part A 143A: 2534-2543.
14. Putcha GV, Bejjani BA, Bleoo S, Booker JK, Carey JC, Carson N, Das S, Dempsey MA, Gastier-Foster JM, Greinwald JH Jr, Hoffmann ML, Jeng LJ, Kenna MA, Khababa I, Lilley M, Mao R, Muralidharan K, Otani IM, Rehm HL, Schaefer F, Seltzer WK, Spector EB, Springer MA, Weck KE, Wenstrup RJ, Withrow S, Wu BL, Zariwala MA, Schrijver I. 2007. A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort. Genet Med 9: 413-426.
15. Snoeckx RL, Huygen PL, Feldmann D, Marlin S, Denoyelle F, Waligora J, Mueller-Malesinska M, Pollak A, Ploski R, Murgia A, Orzan E, Castorina P, Ambrosetti U, Nowakowska-Szyrwinska E, Bal J, Wiszniewski W, Janecke AR, Nekahm-Heis D, Seeman P, Bendova O, Kenna MA, Frangulov A, Rehm HL, Tekin M, Incesulu A, Dahl HH, du Sart D, Jenkins L, Lucas D, Bitner-Glindzicz M, Avraham KB, Brownstein Z, del Castillo I, Moreno F, Blin N, Pfister M, Sziklai I, Toth T, Kelley PM, Cohn ES, Van Maldergem L, Hilbert P, Roux AF, Mondain M, Hoefsloot LH, Cremers CW, Lopponen T, Lopponen H, Parving A, Gronskov K, Schrijver I, Roberson J, Gualandi F, Martini A, Lina-Granade G, Pallares-Ruiz N, Correia C, Fialho G, Cryns K, Hilgert N, Van de Heyning P, Nishimura CJ, Smith RJ, Van Camp G. 2005. GJB2 mutations and degree of hearing loss: A multicenter study. Am J Hum Genet 77: 945-957.