Human Genetics

, Volume 109, Issue 5, pp 535–541

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

  • Nikki Liburd
  • Manju Ghosh
  • Saima Riazuddin
  • Sadaf Naz
  • Shaheen Khan
  • Zubair Ahmed
  • Sheikh Riazuddin
  • Yong Liang
  • Puthezhath S. Menon
  • Tenesha Smith
  • Ann C. Smith
  • Ken-Shiung Chen
  • James R. Lupski
  • Edward R. Wilcox
  • Lorraine Potocki
  • Thomas B. Friedman
Original Investigation

DOI: 10.1007/s004390100604

Cite this article as:
Liburd, N., Ghosh, M., Riazuddin, S. et al. Hum Genet (2001) 109: 535. 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.

Copyright information

© Springer-Verlag 2001

Authors and Affiliations

  • Nikki Liburd
    • 1
  • Manju Ghosh
    • 1
  • Saima Riazuddin
    • 1
  • Sadaf Naz
    • 1
  • Shaheen Khan
    • 3
  • Zubair Ahmed
    • 1
  • Sheikh Riazuddin
    • 3
  • Yong Liang
    • 1
  • Puthezhath S. Menon
    • 2
  • Tenesha Smith
    • 1
  • Ann C. Smith
    • 4
  • Ken-Shiung Chen
    • 5
  • James R. Lupski
    • 5
  • Edward R. Wilcox
    • 1
  • Lorraine Potocki
    • 5
  • Thomas B. Friedman
    • 1
  1. 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
  2. 2.Genetics Unit, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
  3. 3.Center of Excellence in Molecular Biology, Lahore, Pakistan
  4. 4.Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA
  5. 5.Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
  6. 6.Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA
  7. 7.Pediatrics, Texas Children's Hospital, Houston, Texas 77030, USA