Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - Implications for genetic testing

Clinical Genetics

Volumn 68, Issue 6, 2005, Pages 506-512

  Hutchin, Tim ^a,b   Coy, N N ^a   Conlon, H ^c   Telford, E ^a   Bromelow, K ^a   Blaydon, D ^d   Taylor, G ^a   Coghill, E ^e   Brown, S ^e   Trembath, R ^c   Liu, X Z ^f   Bitner Glindzicz, M ^d   Mueller, R ^a  

^a ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^b BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^c UNIVERSITY OF LEICESTER   (United Kingdom)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e MRC MAMMALIAN GENETICS UNIT   (United Kingdom)

^f UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

Author keywords

Deafness; Genetics; Mutations; Recessive

Indexed keywords

AMINO ACID; CONNEXIN 26; GENE PRODUCT; OTOFERLIN; PROTEIN CDH23; PROTEIN CLDN14; PROTEIN MYO7A; PROTEIN PCDH15; PROTEIN SLC26A4; PROTEIN TECTA; PROTEIN TMPRSS3; PROTEIN USH1C; SERINE PROTEINASE; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CAUCASIAN; CHILDHOOD DISEASE; COHORT ANALYSIS; CONTROLLED STUDY; EXON; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC SCREENING; HEARING IMPAIRMENT; HUMAN; MAJOR CLINICAL STUDY; PRESCHOOL CHILD; PRIORITY JOURNAL; SIBLING; UNITED KINGDOM;

CADHERINS; CHILD, PRESCHOOL; CONNEXINS; DEAFNESS; DNA MUTATIONAL ANALYSIS; EUROPEAN CONTINENTAL ANCESTRY GROUP; EXTRACELLULAR MATRIX PROTEINS; GENES, RECESSIVE; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; GREAT BRITAIN; HUMANS; MEMBRANE GLYCOPROTEINS; MEMBRANE PROTEINS; MEMBRANE TRANSPORT PROTEINS; MUTATION; NEOPLASM PROTEINS; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEIN PRECURSORS; SERINE ENDOPEPTIDASES;

EID: 28644439243     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2005.00539.x     Document Type: Article

References (30)

1. Davis A, Bamford J, Wilson I, Ramkalawan T, Forshaw M, Wright S. A critical review of the role of neonatal hearing screening in the detection of congenital hearing impairment. Health Technol Assess 1997: 1 (10):i-iv: 1-176.
2. van Camp G, Smith RJH. Hereditary Hearing Loss Home Page. [Available at http://webhost.ua.ac.be/hhh/].
3. Zelante L, Gasparini P, Estivill X et al. Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum Mol Genet 1997: 6: 1605-1609.
4. Lench N, Houseman M, Newton V, Van Camp G, Mueller R. Connexin-26 mutations in sporadic non-syndromal sensorineural deafness. Lancet 1998: 351: 415.
5. Gasparini P, Rabionet R, Barbujani G et al. High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delg. Eur J Hum Genet 2000: 8: 19-23.
6. del Castillo I, Villamar M, Moreno-Pelayo MA et al. A deletion involving the connexin 30 gene in nonsyndromic hearing impairment. N Engl J Med 2002: 346: 243-249.
7. Berkeley Drosophila Genome Project Splice Site Prediction by Neural Network. [Available at http://www.fruitfly.org/seq_tools/splice.html].
8. Marlin S, Garabedian EN, Roger G et al. Connexin 26 gene mutations in congenitally deaf children: pitfalls for genetic counseling. Arch Otolaryngol Head Neck Surg 2001: 127: 927-933.
9. Houseman MJ, Ellis LA, Pagnamenta A et al. Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss. J Med Genet 2001: 38: 20-25.
10. Mueller RF, Nehammer A, Middleton A et al. Congenital non-syndromal sensorineural hearing impairment due to connexin 26 gene mutations - molecular and audiological findings. Int J Pediatr Otorhinolaryngol 1999: 50: 3-13.
11. Denoyelle F, Marlin S, Weil D et al. Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling. Lancet 1999: 353: 1298-1303.
12. Everett LA, Glaser B, Beck JC et al. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet 1997: 17: 411-422.
13. Li XC, Everett LA, Lalwani AK et al. A mutation in PDS causes non-syndromic recessive deafness. Nat Genet 1998: 18: 215-217.
14. Campbell C, Cucci RA, Prasad S et al. Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations. Hum Mutat 2001: 17: 403-411.
15. Fraser GR. Association of congenital deafness with goitre (Pendred's syndrome): a study of 207 families. Ann Hum Genet 1965: 28: 201-249.
16. Reardon W, Coffey R, Chowdhury T et al. Prevalence, age of onset, and natural history of thyroid disease in Pendred syndrome. J Med Genet 1999: 36: 595-598.
17. Phelps PD, Coffey RA, Trembath RC et al. Radiological malformations of the ear in Pendred syndrome. Clin Radiol 1998: 53: 268-273.
18. Veske A, Oehlmann R, Younus F et al. Autosomal recessive non-syndromic deafness locus (DFNB8) maps on chromosome 21q22 in a large consanguineous kindred from Pakistan. Hum Mol Genet 1996: 5: 165-168.
19. Bonne-Tamir B, DeStefano AL, Briggs CE et al. Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3. Am J Hum Genet 1996: 58: 1254-1259.
20. Scott HS, Kudoh J, Wattenhofer M et al. Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness. Nat Genet 2001: 27: 59-63.
21. Yasunaga S, Grati M, Chardenoux S et al. OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9. Am J Hum Genet 2000: 67: 591-600.
22. Migliosi V, Modamio-Hoybjor S, Moreno-Pelayo MA et al. Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss. J Med Genet 2002: 39: 502-506.
23. Verhoeven K, Van Laer L, Kirschofer K et al. Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment. Nat Genet 1998: 19: 60-62.
24. Mustapha M, Weil D, Chardenoux S et al. An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual nonsyndromic deafness, DFNB21. Hum Mol Genet 1999: 8: 409-412.
25. Legan PK, Rau A, Keen JN, Richardson GP. The mouse tectorins. Modular matrix proteins of the inner ear homologous to components of the sperm-egg adhesion system. J Biol Chem 1997: 272: 8791-8801.
26. Ahmed ZM, Riazuddin S, Ahmad J et al. PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23. Hum Mol Genet 2003: 12: 3215-3223.
27. Hutchin TP, Thompson KR, Parker M, Newton V, Bitner-Glindzicz M, Mueller RF. Prevalence of mitochondrial DNA mutations in childhood/congenital onset non-syndromal sensorineural hearing impairment. J Med Genet 2001: 38: 229-231.
28. Estivill X, Govea N, Barcelo A et al. Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment with aminoglycosides. Am J Hum Genet 1998: 62: 27-35.
29. Maw MA, Allen-Powell DR, Goodey RJ et al. The contribution of the DFNB1 locus to neurosensory deafness in a Caucasian population. Am J Hum Genet 1995: 57: 629-635.
30. Ahmed ZM, Morell RJ, Riazuddin S et al. Mutations of MYO6 are associated with recessive deafness, DFNB37. Am J Hum Genet 2003: 72: 1315-1322.