Sensorineural Hearing Loss
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Studies from S. Anwar et al in the area of deafness described
2009 AUG 4 - (NewsRx.com) -- According to a study from Lahore, Pakistan, "Pendred's syndrome (PDS) is an autosomal-recessive disorder characterized by sensorineural hearing loss and goiter. PDS is caused by mutations of the SLC26A4 gene encoding pendrin, a transmembrane exchanger of Cl-, I- and HCO3-, which is expressed in the thyroid and inner ear." "SLC26A4 mutations can also be associated with non-syndromic deafness, DFNB4. The goal of our study was to define the identities and frequencies of SLC26A4 mutations in 563 large, consanguineous Pakistani families segregating severe-to-profound recessive deafness. Sequence analyses of SLC26A4 in 46 unreported families segregating deafness linked to DFNB4/PDS revealed 16 probable pathogenic variants, 8 of which are novel. The novel variants include three missense substitutions (p.R24L, p.G139V and p.V231M), two splice site mutations (c.304+2T >C and c.1341+3A >C), one frameshift (p.C565MfsX8) and two different genomic deletions affecting exons 1-2 and 11-18. Each of six pathogenic variants (p.V239D, p.Q446R, p.S90L, p.Y556C, p.R24L and p.K715N) was found in more than one family and haplotype analyses suggest that they are founder mutations. Combined with earlier reported data, SLC26A4 mutations were identified in 56 (7.2%; 95% CI: 5.6-9.2%) of 775 families. Therefore, SLC26A4 mutations are the most common known cause of genetic deafness in this population. As p.V239D (30%), p.S90L (18%) and p.Q446R (18%) account for approximately two-third of the mutant alleles of SLC26A4, hierarchical strategies for mutation detection would be feasible and cost-efficient genetic tests for DFNB4 deafness and PDS in Pakistanis," wrote S. Anwar and colleagues. The researchers concluded: "Journal of Human Genetics (2009) 54, 266-270; doi:10.1038/jhg.2009.21; published online 13 March 2009'." Anwar and colleagues published the results of their research in the Journal of Human Genetics (SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis. Journal of Human Genetics, 2009;54(5):266-270). For additional information, contact S. Riazuddin, University of Punjab, National Center Excellence Molecular Biology, 87-W Canal Bank Rd., Thokar Niaz Baig, Lahore 53700, Pakistan. The publisher of the Journal of Human Genetics can be contacted at: Nature Publishing Group, 75 Varick St., 9TH Flr, New York, NY 10013-1917, USA. Keywords: Pakistan, Lahore, Audiology, Deafness, Goiter, Otolaryngology, Pendred's Syndrome, Sensorineural Hearing Loss. This article was prepared by Life Science Weekly editors from staff and other reports. Copyright 2009, Life Science Weekly via NewsRx.com.
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