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Evidence of genetic heterogeneity in Alberta Hutterites with Usher syndrome type I.

https://arctichealth.org/en/permalink/ahliterature123521
Source
Mol Vis. 2012;18:1379-83
Publication Type
Article
Date
2012
Author
Qi Zhou
Chaeli Lenger
Richard Smith
William J Kimberling
Ming Ye
Ordan Lehmann
Ian MacDonald
Author Affiliation
Department of Ophthalmology, Peking Union Medical College, Beijing, China.
Source
Mol Vis. 2012;18:1379-83
Date
2012
Language
English
Publication Type
Article
Keywords
Adolescent
Alberta
Cadherins - genetics
Child
Ethnic Groups - genetics
Exons
Female
Genetic Heterogeneity
Genetic Linkage
Genotype
Homozygote
Humans
Male
Myosins - genetics
Pedigree
Phenotype
Polymorphism, Single Nucleotide
Sequence Analysis, DNA
Siblings
Usher Syndromes - genetics - pathology
Abstract
To identify the genetic defect in a Hutterite population from northern Alberta with Usher syndrome type I.
Complete ophthalmic examinations were conducted on two boys and two girls from two related Hutterite families diagnosed with Usher syndrome type I. DNA from patients and their parents was first evaluated for a mutation in exon 10 of the protocadherin-related 15 (PCDH15) gene (c.1471delG), previously reported in southern Alberta Hutterite patients with Usher syndrome (USH1F). Single nucleotide polymorphic linkage analysis was then used to confirm another locus, and DNA was analyzed with the Usher Chip v4.0 platform.
Severe hearing impairment, unintelligible speech, and retinitis pigmentosa with varying degrees of visual acuity and visual field loss established a clinical diagnosis of Usher syndrome type I. The patients did not carry the exon 10 mutation in the PCDH15 gene; however, with microarray analysis, a previously reported mutation (c.52C>T; p.Q18X) in the myosin VIIA (MYO7A) gene was found in the homozygous state in the affected siblings.
The finding of a MYO7A mutation in two related Hutterite families from northern Alberta provides evidence of genetic heterogeneity in Hutterites affected by Usher syndrome type I.
Notes
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PubMed ID
22690115 View in PubMed
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