Autosomal Recessive Nonsyndromic Hearing Impairment due to a Novel Deletion in the RDX Gene. (1st November 2011)

• Record Type: Journal Article
• Authors: Lee, Kwanghyuk; Amin ud Din, Mohammad; Ansar, Muhammad; Santos-Cortez, Regie Lyn P.; Ahmad, Wasim; Leal, Suzanne M.
• Other Names: Friderici Karen Academic Editor.
• Is Part Of: Genetics research international. Volume 2011(2011)
• Publication Date: 2011-11-01
• Subjects: Genetics -- Research -- Periodicals; 576.5072
• DOI: 10.4061/2011/294675
• Languages: English
• ISSNs: 2090-3154

Abstract

Abstract : 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.