| Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children. | |
| | |
MedLine Citation:
|
PMID: 20613545 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
PURPOSE: 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. METHODS: 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. RESULTS: 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. CONCLUSION: 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. |
| | |
Authors:
|
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 |
Related Documents
:
|
16050525 - The genetics of congenital diaphragmatic hernia. 21068835 - Dysfunction in gaba signalling mediates autism-like stereotypies and rett syndrome phen... 18609495 - Bilateral macular detachment caused by bilateral optic nerve malformation in a papillor... 18388785 - Functional pulmonary atresia in a patient with neonatal marfan syndrome caused by a c.3... 16169365 - Angiographic evaluation of myocardial perfusion in patients with syndrome x. 17483715 - Cleft palate, bilateral external auditory canal atresia, and other midline defects asso... |
Publication Detail:
|
Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
Journal Detail:
|
Title: Genetics in medicine : official journal of the American College of Medical Genetics Volume: 12 ISSN: 1530-0366 ISO Abbreviation: Genet. Med. Publication Date: 2010 Aug |
Date Detail:
|
Created Date: 2010-08-12 Completed Date: 2010-11-30 Revised Date: 2011-08-01 |
Medline Journal Info:
|
Nlm Unique ID: 9815831 Medline TA: Genet Med Country: United States |
Other Details:
|
Languages: eng Pagination: 512-6 Citation Subset: IM |
Affiliation:
|
Department of Genetics, Boys Town National Research Hospital, Omaha, Nebraska 68131, USA. bkimberling@gmail.com |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Adaptor Proteins, Signal Transducing
/
genetics Adolescent Cadherins / genetics Connexins / genetics* Extracellular Matrix Proteins / genetics Female Genetic Testing / methods* Humans Male Microarray Analysis Mutation / genetics Myosins / genetics Oregon / epidemiology Prevalence Questionnaires Sequence Analysis, DNA Usher Syndromes / epidemiology*, genetics* Young Adult |
| Grant Support | |
ID/Acronym/Agency:
|
R01 DC002842-16/DC/NIDCD NIH HHS; R01 DCOO2842//PHS HHS; //Howard Hughes Medical Institute |
| Chemical | |
Reg. No./Substance:
|
0/Adaptor Proteins, Signal Transducing; 0/CDH23 protein, human; 0/Cadherins; 0/Connexins; 0/Extracellular Matrix Proteins; 0/GJB6 protein, human; 0/USH1C protein, human; 0/USH2A protein, human; 127120-53-0/connexin 26; EC 3.6.1.33/myosin VIIa; EC 3.6.4.1/Myosins |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: African Americans' responses to genetic explanations of lung cancer disparities and their willingnes...
Next Document: A novel microdeletion/microduplication syndrome of 19p13.13.