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Article

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

Molecular vision - 1 Jan 2012

Zhou Qi, Lenger Chaeli, Smith Richard, Kimberling William J, Ye Ming, Lehmann Ordan, MacDonald Ian

Abstract excerpt

PURPOSE: To identify the genetic defect in a Hutterite population from northern Alberta with Usher syndrome type I. METHODS: 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),...

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Identifiers

PMID: 22690115
PMCID: PMC3369897

Genes

PCDH15

Variants

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