Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children

William J Kimberling; Michael S Hildebrand; A Eliot Shearer; Maren L Jensen; Jennifer A Halder; Karmen Trzupek; Edward S Cohn; Richard G Weleber; Edwin M Stone; Richard J H Smith

doi:10.1097/GIM.0b013e3181e5afb8

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Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children

Journal article

Open access

Peer reviewed

Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children

William J Kimberling, Michael S Hildebrand, A Eliot Shearer, Maren L Jensen, Jennifer A Halder, Karmen Trzupek, Edward S Cohn, Richard G Weleber, Edwin M Stone and Richard J H Smith

Genetics in medicine, Vol.12(8), pp.512-516

08/2010

DOI: 10.1097/GIM.0b013e3181e5afb8

PMCID: PMC3131500

PMID: 20613545

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https://doi.org/10.1097/GIM.0b013e3181e5afb8View

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Abstract

Usher syndrome is a major cause of genetic deafness and blindness. The hearing loss is usually congenital and the retinitis pigmentosa is progressive and first noticed in early childhood to the middle teenage years. Its frequency may be underestimated. Newly developed molecular technologies can detect the underlying gene mutation of this disorder early in life providing estimation of its prevalence in at risk pediatric populations and laying a foundation for its incorporation as an adjunct to newborn hearing screening programs. A total of 133 children from two deaf and hard of hearing pediatric populations were genotyped first for GJB2/6 and, if negative, then for Usher syndrome. Children were scored as positive if the test revealed > or =1 pathogenic mutations in any Usher gene. Fifteen children carried pathogenic mutations in one of the Usher genes; the number of deaf and hard of hearing children carrying Usher syndrome mutations was 15/133 (11.3%). The population prevalence was estimated to be 1/6000. Usher syndrome is more prevalent than has been reported before the genome project era. Early diagnosis of Usher syndrome has important positive implications for childhood safety, educational planning, genetic counseling, and treatment. The results demonstrate that DNA testing for Usher syndrome is feasible and may be a useful addition to newborn hearing screening programs.

Prevalence

Extracellular Matrix Proteins - genetics

Humans

Connexins - genetics

Connexin 30

Male

Mutation - genetics

Genetic Testing - methods

Myosins - genetics

Sequence Analysis, DNA

Connexin 26

Young Adult

Usher Syndromes - genetics

Microarray Analysis

Usher Syndromes - epidemiology

Adaptor Proteins, Signal Transducing - genetics

Adolescent

Female

Surveys and Questionnaires

Cadherins - genetics

Oregon - epidemiology

Details

Title: Subtitle: Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children
Creators: William J Kimberling - Department of Genetics, Boys Town National Research Hospital, Omaha, Nebraska 68131, USA. bkimberling@gmail.com
Michael S Hildebrand
A Eliot Shearer
Maren L Jensen
Jennifer A Halder
Karmen Trzupek
Edward S Cohn
Richard G Weleber
Edwin M Stone
Richard J H Smith
Resource Type: Journal article
Publication Details: Genetics in medicine, Vol.12(8), pp.512-516
DOI: 10.1097/GIM.0b013e3181e5afb8
PMID: 20613545
PMCID: PMC3131500
NLM abbreviation: Genet Med
ISSN: 1098-3600
eISSN: 1530-0366
Publisher: United States
Grant note: R01 DC002842-16 / NIDCD NIH HHS R01 DC002842 / NIDCD NIH HHS Howard Hughes Medical Institute R01 DCOO2842 / PHS HHS
Language: English
Date published: 08/2010
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; Ophthalmology and Visual Sciences
Record Identifier: 9983980046402771

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