Next-generation sequencing identifies gene linked to hearing impairment

Schraders Margit

A group of researchers at the Department of Human Genetics have recently published an article in the American Journal of Human Genetics using next-generation sequencing to identify mutations of SMPX, a gene encoding the Small Muscle Protein, X-Linked, as a cause of progressive hearing impairment.

In this study mutations of SMPX were identified as a cause of X-linked postlingual progressive nonsyndromic hearing impairment by combining next generation sequencing with traditional genetic linkage analysis. SMPX, encoding the small muscle protein X-linked, had previously been demonstrated to be preferentially and highly expressed in striated muscle and therefore seemed an unlikely candidate gene for hearing impairment.

In muscle SMPX is associated with the costameres and is thought to function in the actin-associated protein complex. The role in inner ear remains to be elucidated. Quantitative analysis showed that SMPX is expressed in several different organs including human inner ear. Remarkably, although SMPX is highly expressed in muscle the patients show no symptoms other than hearing impairment.

Schraders M, Haas SA, Weegerink NJ, Oostrik J, Hu H, Hoefsloot LH, Kannan S, Huygen PL, Pennings RJ, Admiraal RJ, Kalscheuer VM, Kunst HP, Kremer H. Next-Generation Sequencing Identifies Mutations of SMPX, which Encodes the Small Muscle Protein, X-Linked, as a Cause of Progressive Hearing Impairment. Am J Hum Genet. 2011 May 4.

Photo: Margit Schraders


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