Autosomal Recessive Nonsyndromic Hearing Impairment due to a Novel Deletion in the RDX Gene
Joint Authors
Lee, Kwanghyuk
Ahmad, Wasim
Leal, Suzanne M.
Santos-Cortez, Regie Lyn P.
Amin ud Din, Mohammad
Ansar, Muhammad
Source
Genetics Research International
Issue
Vol. 2011, Issue 2011 (31 Dec. 2011), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2011-11-01
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
The RDX gene anchors cytoskeletal actin of stereocilia to hair cell transmembrane and is responsible for autosomal recessive nonsyndromic hearing impairment (ARNSHI) due to DFNB24.
A genome scan was performed using DNA samples from a consanguineous Pakistani family with ARNSHI.
A significant maximum two-point LOD score of 4.5 (θ=0) and multipoint LOD score of 5.8 were achieved at marker D11S1998 (chr11 : 117.20 Mb).
The region of homozygosity is bounded by markers D11S2000 (105.06 Mb) and D11S4464 (123.13 Mb) and contains the NSHI genes TECTA and RDX.
Although no potentially causal variants were identified in the TECTA gene, within the RDX gene a novel deletion c.1076_1079delTTAA (p.Ile359Lysfs*6) was identified.
The RDX deletion segregates with ARNSHI within the family and was not observed in 500 control chromosomes.
It is predicted to cause premature truncation of radixin at the α-helical domain and to result in nonfunctional transcripts within the cochlea.
RDX isoforms which encode the coiled-coil region of the α-helical domain are deemed necessary for proper function of hair cell stereocilia.
American Psychological Association (APA)
Lee, Kwanghyuk& Amin ud Din, Mohammad& Ansar, Muhammad& Santos-Cortez, Regie Lyn P.& Ahmad, Wasim& Leal, Suzanne M.. 2011. Autosomal Recessive Nonsyndromic Hearing Impairment due to a Novel Deletion in the RDX Gene. Genetics Research International،Vol. 2011, no. 2011, pp.1-5.
https://search.emarefa.net/detail/BIM-461155
Modern Language Association (MLA)
Lee, Kwanghyuk…[et al.]. Autosomal Recessive Nonsyndromic Hearing Impairment due to a Novel Deletion in the RDX Gene. Genetics Research International No. 2011 (2011), pp.1-5.
https://search.emarefa.net/detail/BIM-461155
American Medical Association (AMA)
Lee, Kwanghyuk& Amin ud Din, Mohammad& Ansar, Muhammad& Santos-Cortez, Regie Lyn P.& Ahmad, Wasim& Leal, Suzanne M.. Autosomal Recessive Nonsyndromic Hearing Impairment due to a Novel Deletion in the RDX Gene. Genetics Research International. 2011. Vol. 2011, no. 2011, pp.1-5.
https://search.emarefa.net/detail/BIM-461155
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-461155