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Evidence for additional FREM1 heterogeneity in Manitoba oculotrichoanal syndrome.

Authors
Type
Published Article
Journal
Molecular vision
1090-0535
Publication Date
Volume
18
Pages
1301–1311
Identifiers
PMID: 22690109
Source
Medline
License
Unknown

Abstract

This study illustrates the utility of studying geographically isolated populations to identify genomic regions responsible for disease through analysis of small numbers of affected individuals. The location of the IBD region 16 kb from FREM1 suggests the phenotype in these patients is attributable to a variant outside of FREM1, potentially in a regulatory element, whose identification may prove tractable to next generation sequencing. In the context of recent identification of FREM1 coding mutations in a proportion of MOTA cases, characterization of such additional variants offers scope both to enhance understanding of FREM1's role in cranio-facial biology and may facilitate genetic counselling in populations with high prevalences of MOTA to reduce the incidence of this disorder.

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