Maternally inherited nonsyndromic hearing loss

Rick A Friedman; Yelena Bykhovskaya; Carolyn M Sue; Salvatore DiMauro; Robert Bradley; Rebecca Fallis-Cunningham; Nancy Paradies; Myles L Pensak; Richard J Smith; Joanna Groden; Xiaoyan C Li; Nathan Fischel-Ghodsian

doi:10.1002/(SICI)1096-8628(19990604)84:4<369::AID-AJMG12>3.0.CO;2-V

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Maternally inherited nonsyndromic hearing loss

Journal article

Peer reviewed

Maternally inherited nonsyndromic hearing loss

Rick A Friedman, Yelena Bykhovskaya, Carolyn M Sue, Salvatore DiMauro, Robert Bradley, Rebecca Fallis-Cunningham, Nancy Paradies, Myles L Pensak, Richard J Smith, Joanna Groden, …

American journal of medical genetics, Vol.84(4), pp.369-372

06/04/1999

DOI: 10.1002/(SICI)1096-8628(19990604)84:4<369::AID-AJMG12>3.0.CO;2-V

PMID: 10340654

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Abstract

In this study we characterized clinically and evaluated molecularly a large family with maternally inherited hearing impairment. Relatives were evaluated audiologically and clinically, the most likely pattern of inheritance was deduced, and molecular DNA analysis for the known mitochondrial mutations associated with hearing impairment was performed. Clinical examination of several relatives showed a normal general state of health, but in 14 of the members tested variable degrees of sensorineural hearing loss were noted. The pedigree was established and demonstrated a clear pat, tern of maternal inheritance, with 34 of 38 offspring of deaf mothers being hearing impaired, but none of 22 offspring of deaf fathers having any hearing impairment. Since by far the most likely explanation of such a maternal inheritance pattern is a mitochondrial mutation, molecular testing for the three known mitochondrial mutations, A1555G, A7445G, and Cins7472, was per, formed on 27 of the relatives. All of the individuals tested had the normal sequence at the sites tested. This family with nonsyndromic sensorineural hearing loss has an inheritance pattern strongly suggestive of a mitochondrial mutation. However, molecular testing for the three known mitochondrial mutations associated with nonsyndromic hearing impairment was negative, implying that additional molecular defects can lead to the same phenotype. The search for this novel molecular defect is underway.

hearing loss

maternally inherited

mitochondrial mutations

Details

Title: Subtitle: Maternally inherited nonsyndromic hearing loss
Creators: Rick A Friedman - House Clinic
Yelena Bykhovskaya - Cedars-Sinai Medical Center
Carolyn M Sue - University of Cincinnati Medical Center
Salvatore DiMauro - University of Cincinnati Medical Center
Robert Bradley - Howard Hughes Medical Institute
Rebecca Fallis-Cunningham - Howard Hughes Medical Institute
Nancy Paradies - Howard Hughes Medical Institute
Myles L Pensak - Howard Hughes Medical Institute
Richard J Smith - Howard Hughes Medical Institute
Joanna Groden - University of Iowa
Xiaoyan C Li - House Clinic
Nathan Fischel-Ghodsian - Cedars-Sinai Medical Center
Resource Type: Journal article
Publication Details: American journal of medical genetics, Vol.84(4), pp.369-372
DOI: 10.1002/(SICI)1096-8628(19990604)84:4<369::AID-AJMG12>3.0.CO;2-V
PMID: 10340654
NLM abbreviation: Am J Med Genet
ISSN: 0148-7299
eISSN: 1096-8628
Publisher: Wiley
Number of pages: 4
Language: English
Date published: 06/04/1999
Academic Unit: Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine
Record Identifier: 9984256931602771

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