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Refinement of the DFNA4 locus to a 1.44 Mb region in 19q13.33

Item Type:Article
Title:Refinement of the DFNA4 locus to a 1.44 Mb region in 19q13.33
Creators Name:Pusch, C.M. and Meyer, B. and Kupka, S. and Smith, R.J. and Lalwani, A.K. and Zenner, H.P. and Blin, N. and Nuernberg, P. and Pfister, M.
Abstract:Many forms of autosomal dominant non-syndromic hearing impairment are known. While the underlying gene defects and causative mutations have been discovered for some forms, the gene responsible for DFNA4 has remained elusive to date. Examination of a German four-generation kindred led to the identification of a 1.44 Mb map segment in con tig NT_011109 as being the most likely DFNA4 candidate region in 19q13.33. The recombination breakpoints in this family and the intervals of two previously reported DFNA4 families allowed us to delineate a minimum consensus region between the markers D19S879 and D19S246. In our family, a maximum two-point LOD score of 4.5 was obtained at theta =0 for the marker D19S867. Within the refined DFNA4 interval the public databases list more than 50 genes, from which several appear to be promising DFNA4 candidates due to similarities with animal models and with other causative genes involved in hearing disability.
Keywords:Audiogram, Autosomal Dominant Mode of Inheritance, Candidate Gene, Deafness, DFNA4, Hearing Impairment
Source:Journal of Molecular Medicine
Page Range:398-402
Date:June 2004
Official Publication:https://doi.org/10.1007/s00109-004-0538-z
PubMed:View item in PubMed

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