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Linkage and association studies in a Malaysian family with autosomal recessive non-syndromic hearing loss

Farah Wahida I, and Aminuddin BS, and Ruszyman Idrus, (2006) Linkage and association studies in a Malaysian family with autosomal recessive non-syndromic hearing loss. Malaysian Journal of Pathology, 28 (1). pp. 23-33. ISSN 0126-8635

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Official URL: http://www.mjpath.org.my

Affiliations

Universiti Kebangsaan Malaysia. Faculty of Medicine. Dept. of Physiology
Hospital Universiti Kebangsaan Malaysia. Tissue Engineering and Human Genetics Laboratory
Ampang Puteri Specialist Hospital. Ear, Nose & Throat Consultant Clinic

Abstract

Hearing loss is a common sensory deficit in humans. The hearing loss may be conductive, sensorineural, or mixed, syndromic or nonsyndromic, prelingual or postlingual. Due to the complexity of the hearing mechanism, it is not surprising that several hundred genes might be involved in causing hereditary hearing loss. There are at least 82 chromosomal loci that have been identified so far which are associated with the most common type of deafness - non-syndromic deafness. However, there are still many more which remained to be discovered. Here, we report the mapping of a locus for autosomal recessive, non-syndromic deafness in a family in Malaysia. The investigated family (AC) consists of three generations - parents who are deceased, nine affected and seven unaffected children and grandchildren. The deafness was deduced to be inherited in an autosomal recessive manner with 70% penetrance. Recombination frequencies were assumed to be equal for both males and females. Using two-point lod score analysis (MLINK), a maximum lod score of 2.48 at 0% recombinant (Z=2.48, θ=0% ) was obtained for the interval D14S63-D14S74. The haplotype analysis defined a 14.38 centiMorgan critical region around marker D14S258 on chromosome 14q23.2-q24.3. There are 16 candidate genes identified with positive expression in human cochlear and each has great potential of being the deaf gene responsible in causing non-syndromic hereditary hearing loss in this particular family. Hopefully, by understanding the role of genetics in deafness, early interventional strategies can be undertaken to improve the life of the deaf community.

Item Type:Journal
Keywords:Autosomal recessive deafness, gene locus, linkage analysis
Subjects:R Medicine
ID Code:1777

Hone SW, Smith RJH. Genetics of hearing impairment. Semin Neonatal 2001; 6:532-41.

Atar O, Avraham KB. Therapeutics of hearing loss: expectations vs reality. DDT 2005; 10(19):1323-30

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(6628):80-3.

Van Camp G, Smith R. The hereditary hearing loss homepage [Online]. 2006 [cited 2006 Apr 12]. Available from: URL: http://webhost.ua.ac.be/hhh/

Genetic Evaluation of Congenital Hearing Loss Expert Panel. 2002. Genetic Evaluation on Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss. Genet Med 2002; 4(3):162-71.

Cobb KL. Glossary. Epidemiol Rev 1997; 19(1):181-5

Van Camp G, Smith RJH. Hereditary Hearing Loss Homepage. World Wide Web URL :http://www.uia.ac.be/dnalab/hhh (Accessed April 2004).

Farah Wahida I, Ruszymah BHI, Aminuddin BS. A gene for autosomal dominant non-syndromic deafness in a small family in Malaysia maps to chromosome 2. Malay J Biochem Molec Biol 2005;11: 24-30.

Skvorak AB, Weng Z, Yee AJ, Robertson NG, Morton CC. Human cochlear expressed sequence tags provide insight into cochlear gene expression and identify candidate genes for deafness. Hum Mol Genet 1999; 8(3):439-52

Gyapay G, Morissette J, Vignal A, Dib C, Fizames C, Millasesau P, et al. The 1993-94 Genethon human genetic linkage map. Nat Genet 1994; 7 (2 Spec No):246-339

Morton CC. Genetics, genomics and gene discovery in the auditory system. Hum Mol Genet 2002; 11(10):1229-40.

Morton CC. Morton Hearing Research Group

http://hearing.bwh.harvard.edu/estinfo.HTM. (Accessed April 2004)

Blum R, Feick P, Puype M, Vandekerckhove J, Klengel R, Nastainczyk W, et al.. Tmp21 and p24A, two type I proteins enriched in pancreatic microsomal membranes, are members of a protein family involved in vesicular trafficking. J Biol Chem 1996; 271(29):17183-9.

Fiaschi T, Raugei G, Marzocchini R, Chiarugi P, Cirri P, Ramponi G. Cloning and expression of the cDNA coding for the erythrocyte isoenzyme of human acylphosphatase. FEBS Lett 1995; 367(2):145-8

Diamond RH, Du K, Lee VM, Mohn KL, Haber BA, Tewari DS, et al. Novel delayed-early and highly insulin-induced growth response genes. Identification of HRS, a potential regulator of alternative pre-mRNA splicing. J Biol Chem 1993; 268(20):15185-92.

Campos-Barros A, Amma LL, Faris JS, Shailam R, Kelley MW, Forrest D. Type 2 iodothyronine deiodinase expression in the cochlea before the onset of hearing. Proc Natl Acad Sci USA 2000; 97(3):1287-92.

Youssoufian H, McAfee M, Kwiatkowski DJ. Cloning and chromosomal localization of the human cytoskeletal alpha-actinin gene reveals linkage to the beta-spectrin gene. Am J Hum Genet 1990; 47(1):62-71

Zlotogora J. Penetrance and expressivity in the molecular age. Genet Med 2003; 5(5):347-52.

Balciuniene J, Dahl N, Borg E, Samuelsson E, Koisti M J, Petterson U, et al. �Evidence for digenic inheritance of non syndromic hereditary hearing loss in a Swedish family. Am J Hum Genet 1998; 63: 786-93.

Ansar M, Din MA, Arshad M, Sohail M, Faiyaz-Ul-Haque M, Haque S, et al. A novel autosomal recessive non-syndromic deafness locus (DFNB35) maps to 14q24.1-14q24.3 in large consanguineous kindred from Pakistan. Eur J Hum Genet 2003; 11(1):77-80.

Manolis EN, Yandavi N, Nadol JB, Eavey RD, McKenna M, Rosenbaum S, et al. A gene for non-syndromic autosomal dominant progressive postlingual sensorineural hearing loss maps to chromosome 14q12-13. Hum Molec Genet 1996; 5:1047-50.

Salam AA, Hafner FM, Linder TE, Spillmann T, Schinzel AA, Leal SM. A novel locus (DFNA23) for prelingual autosomal dominant nonsyndromic hearing loss maps to 14q21-q22 in a Swiss German kindred. Am J Hum Genet 2000; 66: 1984-8.

Fukushima K, Ramesh A, Srikumari Srisailapathy CR, Ni L, Chen A, O’Neill M, et al. Consanguineous nuclear families used to identify a new locus for recessive non-syndromic hearing loss on 14q. Hum Molec Genet 1995; 4: 1643-8.

Snoeckx RL, Kremer H, Ensink RJH, Flothmann K, de Brower A, Smith RJ H, et al. A novel locus for autosomal dominant non-syndromic hearing loss, DFNA31, maps to chromosome 6p21.3. J Med Genet 2004; 41(1):11-3.

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