Phenotype and genotype of deaf patients with combined genomic and mitochondrial inheritance models

Mitochondrion

Volumn 13, Issue 6, 2013, Pages 791-794

  Huang, Shasha ^a,b   Wang, Guojian ^a,b   Jiang, Yi ^c   Yuan, Yongyi ^a,b   Han, Dongyi ^a   Song, Yueshuai ^a,b   Dai, Pu ^a,b  

^a CHINESE PLA GENERAL HOSPITAL   (China)

^b Hainan Branch of PLA General Hospital   (China)

^c FUJIAN MEDICAL UNIVERSITY   (China)

Author keywords

Autosomal recessive; Different genes; Genetic model; Maternal inheritance; Sensorineural hearing loss

Indexed keywords

CONNEXIN 26; MITOCHONDRIAL DNA; PENDRIN; RNA 12S;

ARTICLE; CHINESE; CLINICAL ARTICLE; CONTROLLED STUDY; DISABLED PERSON; GENE MUTATION; GENETIC COUNSELING; GENOTYPE; GJB2 GENE; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; INHERITANCE; MITOCHONDRIAL GENE; PERCEPTION DEAFNESS; PHENOTYPE; PRIORITY JOURNAL; RISK ASSESSMENT; SIBLING; SLC26A4 GENE;

AUTOSOMAL RECESSIVE; DIFFERENT GENES; GENETIC MODEL; MATERNAL INHERITANCE; SENSORINEURAL HEARING LOSS;

COHORT STUDIES; DEAFNESS; FEMALE; GENOME, MITOCHONDRIAL; GENOTYPE; HUMANS; MALE; MODELS, GENETIC; PEDIGREE; PHENOTYPE;

EID: 84887014750     PISSN: 15677249     EISSN: 18728278     Source Type: Journal    
DOI: 10.1016/j.mito.2013.05.004     Document Type: Article

References (28)

1. Abe S., Kelley P.M., Kimberling W.J., Usami S. Connexin 26 gene(GJB2) mutation modulates the severity of hearing loss associated with the 1555A→G mitochondrial mutation. Am. J. Med. Genet. 2001, 1,103(4):334-338.
2. Arjmand E.M., Webber A. Audiometric findings in children with a large vestibular aqueduct. Arch. Otolaryngol. Head Neck Surg. 2004, 130(10):1169-1174.
3. Bitner-Glindzicz M. Hereditary deafness and phenotyping in humans. Br. Med. Bull. 2002, 63:73-94.
4. Choi B.Y., Stewart A.K., Madeo A.C., Pryor S.P., Lenhard S., Kittles R., Eisenman D., Kim H.J., Niparko J., Thomsen J., Arnos K.S., Nance W.E., King K.A., Zalewski C.K., Brewer C.C., Shawker T., Reynolds J.C., Butman J.A., Karniski L.P., Alper S.L., Griffith A.J. Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?. Hum. Mutat. 2009, 30(4):599-608.
5. Downs M.P. Universal newborn hearing screening-the Colorado story. Int. J. Pediatr. Otorhinolaryngol. 1995, 32(3):257-259.
6. Huang S., Han D., Wang G., Yuan Y., Song Y., Han M., Chen Z., Dai P. Sensorineural hearing loss caused by mutations in two alleles of both GJB2 and SLC26A4 genes. Int. J. Pediatr. Otorhinolaryngol. 2013, 77(3):379-383.
7. Jackler R.K., De La Cruz A. The large vestibular aqueduct syndrome. Laryngoscope 1989, 99(12):1238-1242. (discussion 42-3).
8. Kokotas H., Grigoriadou M., Korres G.S., Ferekidou E., Giannoulia-Karantana A., Kandiloros D., Korres S., Petersen M.B. Are GJB2 mutations an aggravating factor in the phenotypic expression of mitochondrial non-syndromic deafness?. J. Hum. Genet. 2010, 55(5):265-269.
9. Levenson M.J., Parisier S.C., Jacobs M., Edelstein D.R. The large vestibular aqueduct syndrome in children. A review of 12 cases and the description of a new clinical entity. Arch. Otolaryngol. Head Neck Surg. 1989, 115(1):54-58.
10. Li R., Greinwald J.H., Yang L., Choo D.I., Wenstrup R.J., Guan M.X. Molecular analysis of the mitochondrial 12S rRNA and tRNASer(UCN) genes in paediatric subjects with non-syndromic hearing loss. J. Med. Genet. 2004, 41(8):615-620.
11. Li R., Xing G., Yan M., Cao X., Liu X.Z., Bu X., Guan M.X. Cosegregation of C-insertion at position 961 with the A1555G mutation of the mitochondrial 12S rRNA gene in a large Chinese family with maternally inherited hearing loss. Am. J. Med. Genet. A 2004, 124A(2):113-117.
12. Li Q., Fang R.P., Zhou H.G., Dai P., Tian L., Lin D., Huang Q., Song J.M. GJB2 235delC single allelic mutation modulates the phenotype associated with the mitochondrial A1555G mutation. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2010, 27(2):194-197.
13. Liu X., Dai P., Huang D.L., Yuan H.J., Li W.M., Cao J.Y., Yu F., Zhang R.N., Lin H.Y., Zhu X.H., He Y., Yu Y.J., Yao K. Large-scale screening of mtDNA A1555G mutation in China and its significance in prevention of aminoglycoside antibiotic induced deafness. Zhonghua Yi Xue Za Zhi 2006, 86(19):1318-1322. (May 23).
14. Lopez-Bigas N., Rabionet R., de Cid R., Govea N., Gasparini P., Zelante L., Arbonés M.L., Estivill X. Splice-site mutation in the PDS gene may result in intrafamilial variability for deafness in Pendred syndrome. Hum. Mutat. 1999, 14(6):520-526.
15. Lu S.Y., Nishio S., Tsukada K., Oguchi T., Kobayashi K., Abe S., Usami S. Factors that affect hearing level in individuals with the mitochodrial 1555A.G mutation. Clin. Genet. 2009, 75(5):480-484.
16. Mehl A.L., Thomson V. Newborn hearing screening: the great omission. Pediatrics 1998, 101(1):E4.
17. Mehl A.L., Thomson V. The Colorado newborn hearing screening project, 1992-1999: on the threshold of effective population-based universal newborn hearing screening. Pediatrics 2002, 109(1):E7.
18. Nakashima T., Ueda H., Furuhashi A., Sato E., Asahi K., Naganawa S., Beppu R. Air-bone gap and resonant frequency in large vestibular aqueduct syndrome. Am. J. Otol. 2000, 21(5):671-674.
19. Snoeckx R.L., Huygen P.L., 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 A.R., Nekahm-Heis D., Seeman P., Bendova O., Kenna M.A., Frangulov A., Rehm H.L., Tekin M., Incesulu A., Dahl H.H., du Sart D., Jenkins L., Lucas D., Bitner-Glindzicz M., Avraham K.B., Brownstein Z., del Castillo I., Moreno F., Blin N., Pfister M., Sziklai I., Toth T., Kelley P.M., Cohn E.S., Van Maldergem L., Hilbert P., Roux A.F., Mondain M., Hoefsloot L.H., Cremers C.W., Löppönen T., Löppönen 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 C.J., Smith R.J., Van Camp G. GJB2 mutations and degree of hearing loss: a multicenter study. Am. J. Hum. Genet. 2005, 77(6):945-957.
20. Tang H.Y., Hutcheson E., Neill S., Drummond-Borg M., Speer M., Alford R.L. Genetic susceptibility to aminoglycoside ototoxicity: how many are at risk?. Genet. Med. 2002, 4(5):336-345.
21. Wang Q.J., Zhao Y.L., Rao S.Q., Guo Y.F., Yuan H., Zong L., Guan J., Xu B.C., Wang D.Y., Han M.K., Lan L., Zhai S.Q., Shen Y. A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China. Clin. Genet. 2007, 72(3):245-254.
22. Wu C.C., Lu Y.C., Chen P.J., Yeh P.L., Su Y.N., Hwu W.L., Hsu C.J. Phenotypic analyses and mutation screening of the SLC26A4 and FOXI1 genes in 101 Taiwanese families with bilateral nonsyndromic enlarged vestibular aqueduct (DFNB4) or Pendred syndrome. Audiol. Neuro Otol. 2010, 15(1):57-66.
23. Yang T., Vidarsson H., Rodrigo-Blomqvist S., Rosengren S.S., Enerback S., Smith R.J. Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4). Am. J. Hum. Genet. 2007, 80(6):1055-1063.
24. Yuan Y., Huang D., Yu F., Zhu X., Kang D., Yuan H., Han Y., Dai P. A de novo GJB2 (connexin 26) mutation, R75W, in a Chinese pedigree with hearing loss and palmoplantar keratoderma. Am. J. Med. Genet. A 2009, 149A(4):689-692.
25. Yuan Y., You Y., Huang D., Cui J., Wang Y., Wang Q., Yu F., Kang D., Yuan H., Han D., Dai P. Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China. J. Transl. Med. 2009, 7:79. (Sep 10).
26. Yuan Y., Yu F., Wang G., Huang S., Yu R., Zhang X., Huang D.L., Han D.Y., Dai P. Prevalence of the GJB2 IVS1+1G>a mutation in Chinese hearing loss patients with monoallelic pathogenic mutation in the coding region of GJB2. J. Transl. Med. 2010, 8:127.
27. Zhao H., Li R., Wang Q., Yan Q., Deng J.H., Han D., Bai Y., Young W.Y., Guan M.X. Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family. Am. J. Hum. Genet. 2004, 74(1):139-152.
28. Zhu Y., Li Q., Chen Z., Kun Y., Liu L., Liu X., Yuan Y., Zhai S., Han D., Dai P. Mitochondrial haplotype and phenotype of 13 Chinese families may suggest multi-original evolution of mitochondrial C1494T mutation. Mitochondrion 2009, 9(6):418-428.