Searching for evidence of DFNB2

Lisa M. Astuto, Philip M. Kelley, James W. Askew, Michael Weston, Richard J H Smith, Abdulrahman F. Alswaid, Mona Al-Rakaf, William J. Kimberling

Research output: Contribution to journalArticle

21 Citations (Scopus)

Abstract

Deafness is the most common form of sensory impairment in humans, affecting about I in 1,000 births in the United States. Of those cases with genetic etiology, approximately 80% are nonsyndromic and recessively inherited. Mutations in several unconventional myosins, members of a large superfamily of actin-associated molecular motors, have been found to cause hearing loss in both humans and mice. Mutations in the human unconventional Myosin VIIa (MYO7A), located at 11q13.5, are reported to be responsible for both syndromic and nonsyndromic deafness. MYO7A mutations are responsible for Usher syndrome type Ib, the most common genetic subtype of Usher I. Usher I is clinically characterized by congenital profound deafness, progressive retinal degeneration called retinitis pigmentosa (RP), and vestibular areflexia. Although a wide spectrum of MYO7A mutations have been identified in Usher Ib patients, four mutations have been reported to cause DFNB2, a recessive deafness without retinal degeneration, and one mutation has been implicated in a single case of dominant nonsyndromic hearing loss (DFNA11). Our study attempts to ascertain additional DFNB2 families to investigate the disparate nonsyndromic phenotype and alleged causative mutations. Data from both linkage and heterogeneity analyses on 36 selected autosomal recessive nonsyndromic deafness (RNSD) families, all previously excluded by mutational analysis from GJB2 (Cx26), the leading cause of nonsyndromic deafness, showed no evidence of DFNB2 within the sample. These negative results and the isolated reports of DFNB2 bring into question whether certain MYO7A mutations produce nonsyndromic recessive hearing loss.

Original languageEnglish
Pages (from-to)291-297
Number of pages7
JournalAmerican Journal of Medical Genetics
Volume109
Issue number4
DOIs
StatePublished - May 15 2002
Externally publishedYes

Fingerprint

Mutation
Deafness
Retinal Degeneration
Retinitis Pigmentosa
Information Storage and Retrieval
Myosins
Hearing Loss
Actins
Nonsyndromic Deafness
Parturition
Phenotype

All Science Journal Classification (ASJC) codes

  • Genetics(clinical)

Cite this

Astuto, L. M., Kelley, P. M., Askew, J. W., Weston, M., Smith, R. J. H., Alswaid, A. F., ... Kimberling, W. J. (2002). Searching for evidence of DFNB2. American Journal of Medical Genetics, 109(4), 291-297. https://doi.org/10.1002/ajmg.10384

Searching for evidence of DFNB2. / Astuto, Lisa M.; Kelley, Philip M.; Askew, James W.; Weston, Michael; Smith, Richard J H; Alswaid, Abdulrahman F.; Al-Rakaf, Mona; Kimberling, William J.

In: American Journal of Medical Genetics, Vol. 109, No. 4, 15.05.2002, p. 291-297.

Research output: Contribution to journalArticle

Astuto, LM, Kelley, PM, Askew, JW, Weston, M, Smith, RJH, Alswaid, AF, Al-Rakaf, M & Kimberling, WJ 2002, 'Searching for evidence of DFNB2', American Journal of Medical Genetics, vol. 109, no. 4, pp. 291-297. https://doi.org/10.1002/ajmg.10384
Astuto LM, Kelley PM, Askew JW, Weston M, Smith RJH, Alswaid AF et al. Searching for evidence of DFNB2. American Journal of Medical Genetics. 2002 May 15;109(4):291-297. https://doi.org/10.1002/ajmg.10384
Astuto, Lisa M. ; Kelley, Philip M. ; Askew, James W. ; Weston, Michael ; Smith, Richard J H ; Alswaid, Abdulrahman F. ; Al-Rakaf, Mona ; Kimberling, William J. / Searching for evidence of DFNB2. In: American Journal of Medical Genetics. 2002 ; Vol. 109, No. 4. pp. 291-297.
@article{a518caf1e6484d388730ec478824f7a0,
title = "Searching for evidence of DFNB2",
abstract = "Deafness is the most common form of sensory impairment in humans, affecting about I in 1,000 births in the United States. Of those cases with genetic etiology, approximately 80{\%} are nonsyndromic and recessively inherited. Mutations in several unconventional myosins, members of a large superfamily of actin-associated molecular motors, have been found to cause hearing loss in both humans and mice. Mutations in the human unconventional Myosin VIIa (MYO7A), located at 11q13.5, are reported to be responsible for both syndromic and nonsyndromic deafness. MYO7A mutations are responsible for Usher syndrome type Ib, the most common genetic subtype of Usher I. Usher I is clinically characterized by congenital profound deafness, progressive retinal degeneration called retinitis pigmentosa (RP), and vestibular areflexia. Although a wide spectrum of MYO7A mutations have been identified in Usher Ib patients, four mutations have been reported to cause DFNB2, a recessive deafness without retinal degeneration, and one mutation has been implicated in a single case of dominant nonsyndromic hearing loss (DFNA11). Our study attempts to ascertain additional DFNB2 families to investigate the disparate nonsyndromic phenotype and alleged causative mutations. Data from both linkage and heterogeneity analyses on 36 selected autosomal recessive nonsyndromic deafness (RNSD) families, all previously excluded by mutational analysis from GJB2 (Cx26), the leading cause of nonsyndromic deafness, showed no evidence of DFNB2 within the sample. These negative results and the isolated reports of DFNB2 bring into question whether certain MYO7A mutations produce nonsyndromic recessive hearing loss.",
author = "Astuto, {Lisa M.} and Kelley, {Philip M.} and Askew, {James W.} and Michael Weston and Smith, {Richard J H} and Alswaid, {Abdulrahman F.} and Mona Al-Rakaf and Kimberling, {William J.}",
year = "2002",
month = "5",
day = "15",
doi = "10.1002/ajmg.10384",
language = "English",
volume = "109",
pages = "291--297",
journal = "American Journal of Medical Genetics, Part C: Seminars in Medical Genetics",
issn = "1552-4868",
publisher = "Wiley-Liss Inc.",
number = "4",

}

TY - JOUR

T1 - Searching for evidence of DFNB2

AU - Astuto, Lisa M.

AU - Kelley, Philip M.

AU - Askew, James W.

AU - Weston, Michael

AU - Smith, Richard J H

AU - Alswaid, Abdulrahman F.

AU - Al-Rakaf, Mona

AU - Kimberling, William J.

PY - 2002/5/15

Y1 - 2002/5/15

N2 - Deafness is the most common form of sensory impairment in humans, affecting about I in 1,000 births in the United States. Of those cases with genetic etiology, approximately 80% are nonsyndromic and recessively inherited. Mutations in several unconventional myosins, members of a large superfamily of actin-associated molecular motors, have been found to cause hearing loss in both humans and mice. Mutations in the human unconventional Myosin VIIa (MYO7A), located at 11q13.5, are reported to be responsible for both syndromic and nonsyndromic deafness. MYO7A mutations are responsible for Usher syndrome type Ib, the most common genetic subtype of Usher I. Usher I is clinically characterized by congenital profound deafness, progressive retinal degeneration called retinitis pigmentosa (RP), and vestibular areflexia. Although a wide spectrum of MYO7A mutations have been identified in Usher Ib patients, four mutations have been reported to cause DFNB2, a recessive deafness without retinal degeneration, and one mutation has been implicated in a single case of dominant nonsyndromic hearing loss (DFNA11). Our study attempts to ascertain additional DFNB2 families to investigate the disparate nonsyndromic phenotype and alleged causative mutations. Data from both linkage and heterogeneity analyses on 36 selected autosomal recessive nonsyndromic deafness (RNSD) families, all previously excluded by mutational analysis from GJB2 (Cx26), the leading cause of nonsyndromic deafness, showed no evidence of DFNB2 within the sample. These negative results and the isolated reports of DFNB2 bring into question whether certain MYO7A mutations produce nonsyndromic recessive hearing loss.

AB - Deafness is the most common form of sensory impairment in humans, affecting about I in 1,000 births in the United States. Of those cases with genetic etiology, approximately 80% are nonsyndromic and recessively inherited. Mutations in several unconventional myosins, members of a large superfamily of actin-associated molecular motors, have been found to cause hearing loss in both humans and mice. Mutations in the human unconventional Myosin VIIa (MYO7A), located at 11q13.5, are reported to be responsible for both syndromic and nonsyndromic deafness. MYO7A mutations are responsible for Usher syndrome type Ib, the most common genetic subtype of Usher I. Usher I is clinically characterized by congenital profound deafness, progressive retinal degeneration called retinitis pigmentosa (RP), and vestibular areflexia. Although a wide spectrum of MYO7A mutations have been identified in Usher Ib patients, four mutations have been reported to cause DFNB2, a recessive deafness without retinal degeneration, and one mutation has been implicated in a single case of dominant nonsyndromic hearing loss (DFNA11). Our study attempts to ascertain additional DFNB2 families to investigate the disparate nonsyndromic phenotype and alleged causative mutations. Data from both linkage and heterogeneity analyses on 36 selected autosomal recessive nonsyndromic deafness (RNSD) families, all previously excluded by mutational analysis from GJB2 (Cx26), the leading cause of nonsyndromic deafness, showed no evidence of DFNB2 within the sample. These negative results and the isolated reports of DFNB2 bring into question whether certain MYO7A mutations produce nonsyndromic recessive hearing loss.

UR - http://www.scopus.com/inward/record.url?scp=0037093754&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0037093754&partnerID=8YFLogxK

U2 - 10.1002/ajmg.10384

DO - 10.1002/ajmg.10384

M3 - Article

VL - 109

SP - 291

EP - 297

JO - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

JF - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

SN - 1552-4868

IS - 4

ER -