Article
Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment.
American journal of human genetics - 13 May 2011
Schraders Margit, Haas Stefan A, Weegerink Nicole J D, Oostrik Jaap, Hu Hao, Hoefsloot Lies H, Kannan Sriram, Huygen Patrick L M, Pennings Ronald J E, Admiraal Ronald J C, Kalscheuer Vera M, Kunst Henricus P M, Kremer Hannie
Abstract excerpt
In a Dutch family with an X-linked postlingual progressive hearing impairment, a critical linkage interval was determined to span a region of 12.9 Mb flanked by the markers DXS7108 and DXS7110. This interval overlaps with the previously described DFNX4 locus and contains 75 annotated genes. Subsequent next-generation sequencing (NGS) detected one variant within the linkage interval, a nonsense mutation in SMPX....
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