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A founder mutation of TMPRSS3 associated with nonsyndromic sensorineural congenital deafness in the Palestinian population
Joint Authors
Walsh, Tom
Abu Rayyan, Amal
Shahin, Hashim
Ibrahim, Karen
King, Mary-Claire
Kanan, Muin
Source
Issue
Vol. 2006, Issue 25 (31 Dec. 2006), pp.9-20, 12 p.
Publisher
Bethlehem University Office of the Deanship of Research
Publication Date
2006-12-31
Country of Publication
Palestine (West Bank)
No. of Pages
12
Main Subjects
Abstract EN
Mutations in TMPRSS3 (OMIM 605511), which encodes a transmembrane serine protease, are responsible for non-syndromic recessive deafness in Pakistani, Palestinian, and Tunisian families.
Here we report a novel founder TMPRSS3 mutation in the Palestinian population, 988delA, which leads to a stop at codon 357 and hence abrogates the serine protease activity of the TMPRSS3 protein.
Homozygosity for 988delA was associated with severe to profound congenital sensorineural deafness in four consanguineous Palestinian families.
In the Palestinian population, 1% of hearing individuals are heterozygous carriers of this mutation.
American Psychological Association (APA)
Walsh, Tom& Abu Rayyan, Amal& Shahin, Hashim& Ibrahim, Karen& King, Mary-Claire& Kanan, Muin. 2006. A founder mutation of TMPRSS3 associated with nonsyndromic sensorineural congenital deafness in the Palestinian population. Bethlehem University Journal،Vol. 2006, no. 25, pp.9-20.
https://search.emarefa.net/detail/BIM-629147
Modern Language Association (MLA)
Abu Rayyan, Amal…[et al.]. A founder mutation of TMPRSS3 associated with nonsyndromic sensorineural congenital deafness in the Palestinian population. Bethlehem University Journal No. 25 (Dec. 2006), pp.9-20.
https://search.emarefa.net/detail/BIM-629147
American Medical Association (AMA)
Walsh, Tom& Abu Rayyan, Amal& Shahin, Hashim& Ibrahim, Karen& King, Mary-Claire& Kanan, Muin. A founder mutation of TMPRSS3 associated with nonsyndromic sensorineural congenital deafness in the Palestinian population. Bethlehem University Journal. 2006. Vol. 2006, no. 25, pp.9-20.
https://search.emarefa.net/detail/BIM-629147
Data Type
Journal Articles
Language
English
Notes
Includes appendices : p. 16-20
Record ID
BIM-629147