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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.

Autosomal Recessive Nonsyndromic Hearing Impairment due to a Novel Deletion in the RDX Gene