Phenotype and genotype analysis of a Chinese family with prelingual X-linked hereditary hearing impairment

Chinese Medical Journal

Volumn 122, Issue 7, 2009, Pages 830-833

  Han, Bing ^a   Cheng, Jing ^a   Yang, Shu Zhi ^a   Cao, Ju Yang ^a   Shen, Wei Dong ^a   Ji, Fei ^a   Kang, Dong Yang ^a   Zhang, Xin ^a   Dai, Pu ^a   Yuan, Hui Jun ^a  

^a CHINESE PLA GENERAL HOSPITAL   (China)

Author keywords

Clinical feature; Linkage analysis; X linked hearing impairment

Indexed keywords

TRANSCRIPTION FACTOR POU; TRANSCRIPTION FACTOR POU3F4; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CHINESE; CHROMOSOME XQ; CLINICAL ARTICLE; DNA SEQUENCE; FEMALE; GENE LOCUS; GENE MAPPING; GENOTYPE PHENOTYPE CORRELATION; HEARING LOSS; HETEROZYGOSITY; HUMAN; LINKAGE ANALYSIS; MALE; MICROSATELLITE MARKER; MUTATIONAL ANALYSIS; PEDIGREE ANALYSIS; PERCEPTION DEAFNESS; X CHROMOSOME LINKED DISORDER;

ASIAN CONTINENTAL ANCESTRY GROUP; CHROMOSOMES, HUMAN, X; FEMALE; GENOTYPE; HEARING LOSS; HEARING LOSS, SENSORINEURAL; HUMANS; LINKAGE (GENETICS); MALE; PEDIGREE; PHENOTYPE;

EID: 68249157950     PISSN: 03666999     EISSN: None     Source Type: Journal    
DOI: 10.3760/cma.j.issn.0366-6999.2009.07.013     Document Type: Article

References (20)

1. Cohen MM, Gorlin RJ. Epidemiology, etiology, and genetic patterns. In: Gorlin RJ, Toriello HV, Cohen MM, eds. Hereditary hearing loss and its syndromes. Oxford: Oxford University Press; 1995: 9-21.
2. Gorlin RJ. Genetic hearing loss with no associated abnormalities. In: Gorlin RJ, Toriello HV, Cohen MM, eds. Hereditary hearing loss and its syndromes. Oxford: Oxford University Press; 1995: 43-61.
3. Online Mendelian Inheritance in Man OT (http://www.ncbi.nlm.nih.gov/sites/entrez?db=0min). Center for Medical Genetics, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD) 1996.
4. Petersen MB, Wang Q, Willems PJ. Sex-linked deafness. Clin Genet 2008; 73: 14-23.
5. Tranebjaerg L, Schwartz C, Eriksen H, Andreasson S, Ponjavic V, Dahl A, et al. A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22. J Med Genet 1995; 32: 257-263.
6. Lalwani AK, Brister JR, Fex J, Grundfast KM, Pikus AT, Ploplis B, et al. A new nonsyndromic X-linked sensorineural hearing impairment linked to Xp21.2. Am J Hum Genet 1994; 55: 685-694.
7. del Castillo I, Villamar M, Sarduy M, Romero L, Herraiz C, Hernandez FJ, et al. A novel locus for non-syndromic sensorineural deafness (DFN6) maps to chromosome Xp22. Hum Mol Genet 1996; 5: 1383-1387.
8. Tyson J, Bellman S, Newton V, Simpson P, Malcolm S, Pembrey ME, et al. Mapping of DFN2 to Xq22. Hum Mol Genet 1996; 5: 2055-2060.
9. de Kok YJ, van der Maarel SM, Bitner-Glindzicz M, Huber I, Monaco AP, Malcolm S, et al. Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4. Science 1995; 267: 685-688.
10. Pfister MH, Lalwani AK. Clinical phenotype of DFN2, DFN4 and DFN6. Adv Otorhinolaryngol 2002; 61: 168-171.
11. Bach I, Brunner HG, Beighton P, Ruvalcaba RH, Reardon W, Pembrey ME, et al. Microdeletions in patients with gusher-associated, X-linked mixed deafness (DFN3). Am J Hum Genet 1992; 51: 38-44.
12. Friedman RA, Bykhovskaya Y, Tu G, Talbot JM, Wilson DF, Parnes LS, et al. Molecular analysis of the POU3F4 gene in patients with clinical and radiographic evidence of X-linked mixed deafness with perilymphatic gusher. Ann Otol Rhinol Laryngol 1997; 106: 320-325.
13. de Kok YJ, Merkx GF, van der Maarel SM, Huber I, Malcolm S, Ropers HH, et al. A duplication/paracentric inversion associated with familial X-linked deafness (DFN3) suggests the presence of a regulatory element more than 400 kb upstream of the POU3F4 gene. Hum Mol Genet 1995; 4: 2145-2150.
14. Hildebrand MS, de Silva MG, Tan TY, Rose E, Nishimura C, Tolmachova T, et al. Molecular characterization of a novel X-linked syndrome involving developmental delay and deafness. Am J Med Genet A 2007; 143A: 2564-2575.
15. Wang Q, Gu R, Han D, Yang W. Familial auditory neuropathy. Laryngoscope 2003; 113: 1623-1629.
16. Wang QJ, Li QZ, Rao SQ, Lee K, Huang XS, Yang WY, et al. AUNX1, a novel locus responsible for X linked recessive auditory and peripheral neuropathy, maps to Xq23-27.3. J Med Genet 2006; 43: e33.
17. Starr A, Sininger YS, Pratt H. The varieties of auditory neuropathy. J Basic Clin Physiol Pharmacol 2000; 11: 215-230.
18. Liu XZ, Walsh J, Tamagawa Y, Kitamura K, Nishizawa M, Steel KP, et al. Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene. Nat Genet 1997; 17: 268-269.
19. Weil D, Kussel P, Blanchard S, Levy G, Levi-Acobas F, Drira M, et al. The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene. Nat Genet 1997; 16: 191-193.
20. Weil D, Blanchard S, Kaplan J, Guilford P, Gibson F, Walsh J, et al. Defective myosin VIIA gene responsible for Usher syndrome type 1B. Nature 1995; 374: 60-61.