2. Academic Validation
  3. Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome

Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome

  • Hum Genet. 2001 Nov;109(5):535-41. doi: 10.1007/s004390100604.
N Liburd 1,  M Ghosh,  S Riazuddin,  S Naz,  S Khan,  Z Ahmed,  S Riazuddin,  Y Liang,  P S Menon,  T Smith,  A C Smith,  K S Chen,  J R Lupski,  E R Wilcox,  L Potocki,  T B Friedman
Affiliations

Affiliation

  • 1 Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Room 2A-015, Rockville, MD 20850, USA.
PMID: 11735029 DOI: 10.1007/s004390100604
Abstract

Mutations in Myosin XVA are responsible for the shaker 2 ( sh2) phenotype in mice and nonsyndromic autosomal recessive profound hearing loss DFNB3 on chromosome 17p11.2. We have ascertained seven families with profound congenital hearing loss from Pakistan and India with evidence of linkage to DFNB3 at 17p11.2. We report three novel homozygous mutations in MYO15A segregating in three of these families. In addition, one hemizygous missense mutation of MYO15A was found in one of eight Smith-Magenis syndrome (del(17)p11.2) patients from North America who had moderately severe sensorineural hearing loss.

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