A Novel Deletion in SMPX Causes a Rare form of X‐Linked Progressive Hearing Loss in Two Families Due to a Founder Effect. Issue 1 (11th October 2012)

• Record Type: Journal Article
• Authors: Abdelfatah, Nelly; Merner, Nancy; Houston, Jim; Benteau, Tammy; Griffin, Anne; Doucette, Lance; Stockley, Tracy; Lauzon, Julie L.; Young, Terry‐Lynn
• Is Part Of: Human mutation. Volume 34:Issue 1(2013:Jan.)
• Page Start: 66
• Page End: 69
• Publication Date: 2012-10-11
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22205
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="main"> <title>ABSTRACT</title> <p>X‐linked hearing loss is the rarest form of genetic hearing loss contributing to &lt;1% of cases. We identified a multiplex family from Newfoundland (Family 2024) segregating X‐linked hearing loss. Haplotyping of the X chromosome and sequencing of positional candidate genes revealed a novel point deletion (c.99delC) in <italic>SMPX</italic> which encodes a small muscle protein responsible for reducing mechanical stress during muscle contraction. This novel deletion causes a frameshift and a premature stop codon (p.Arg34GlufsX47). We successfully sequenced both <italic>SMPX</italic> wild‐type and mutant alleles from cDNA of a lymphoblastoid cell line, suggesting that the mutant allele may not be degraded via nonsense‐mediated mRNA decay. To investigate the role of <italic>SMPX</italic> in other subpopulations, we fully sequenced <italic>SMPX</italic> in 229 Canadian probands with hearing loss and identified a second Newfoundland Family (2196) with the same mutation, and a shared haplotype on the X chromosome, suggesting a common ancestor.</p> </abstract>