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Genetic mapping refines DFNB3 (ital) to 17p11.2, suggests multiple alleles of DFNB3 (ital), and supports homology to the mouse model shaker-2 (ital)

Article Abstract:

Genetic mapping has refined DFNB3 (ital), the nonsyndromic congenital recessive deafness gene, to 17p11.2 and suggested multiple alleles of DFNB3 (ital). It also supports homology to the mouse model shaker-2 (ital). DFNB3 (ital) was first identified in a village in Bali in Indonesia. Affected individuals from that village and from a neighboring village have been found to be homozygous for the same alleles for six adjacent short tandem repeats (STRs) in the DFNB3 (ital) region and heterozygous for other distal markers. Nonsyndromic deafness in two unrelated consanguineous Indian families were linked to the same region. DFNB3 (ital) appears to make a significant contribution to hereditary deafness in the world.

Author: Wilcox, Edward R., Friedman, Thomas B., Lupski, James R., Camper, Sally A., Dolan, David F., Liang, Yong, Probst, Frank J., Wang, Aihui, Arhya, I. Nyoman, Barber, Thomas D., Chen, Ken-Shiung, Deshmukh, Dilip, Hinnant, John T., Carter, Lynn E., Jain, Pawan K., Lalwani, Anil K., Li, Xiaoyan C., Moeljopawiro, Sukarti, Morell, Robert, Negrini, Clelia, Winata, Sunaryana
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1998
India, Indonesia, Research, Usage, Chromosome mapping, Genetic disorders

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Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment of DFNB35

Article Abstract:

The mapping of autosomal-recessive nonsyndromic hearing impairment segregated in a large consanguineous family of Turkish origin to chromosome 14q24.3-q34.12 is described. It is indicated that ESRRB is essential for inner-ear development and function.

Author: Leal, Suzanne M., Brunner, Han G., Vriend, Gert, Riazuddin, Saima, Friedman, Thomas B., Cremers, Frans P.M., Ahmad, Wasim, Ahmed, Zubair M., Yun Li, Riazuddin, Sheikh, Wollnik, Bernd, Collin, Rob W.J., Kalay, Ersan, Tariq, Muhammad, Peters, Theo, Zwaag, Bert van der, Venselaar, Hanka, Oostrik, Jaap, Lee, Kwanghyuk, Caylan, Refik, Spierenburg, Henk A., Eyupoglu, Erol, Heister, Angelien, Bahat, Elif, Ansar, Muhammad, Arslan, Selcuk, Cremers, Cor W.R.J., Karaguzel, Ahmet, Kremer, Hannie
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2008
Health aspects, Consanguinity, Hearing disorders

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Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29

Article Abstract:

The claudin family of genes encode protein components of cochlear duct tight junctions, which serve as structural support for the auditory neuroepithelium. Mutations in the claudin14 gene cause nonsyndromic recessive deafness DFNB29.

Author: Kachar, Bechara, Wilcox, Edward R., Burton, Quianna L., Naz, Sadaf, Riazuddin, Saima, Smith, Tenesha N., Ploplis, Barbara, Belyantseva, Inna, Ben-Yosef, Tamar, Liburd, Nikki A., Morell, Robert J., Wu, Doris K., Griffith, Andrew J., Sheikh, Riazuddin, Friedman, Thomas B.
Publisher: Elsevier B.V.
Publication Name: Cell
Subject: Biological sciences
ISSN: 0092-8674
Year: 2001
Pakistan, Analysis, Ear

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Subjects list: United States, Genetic aspects, Deafness, Gene mutations, Gene mutation
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