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Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome)
K W Kjaer1, L Hansen, G C Schwabe
1Wilhelm Johannsen Centre for Functional Genome Research, Institute of Medical Biochemistry and Genetics, University of Copenhagen, Copenhagen, Denmark. klaus@medgen.ku.dk
Journal of Medical Genetics
|April 5, 2005
Summary
Ectodermal dysplasia, ectrodactyly, and macular dystrophy (EEM) syndrome is linked to distinct CDH3 gene mutations. This study identifies CDH3 as a crucial gene in human hand development, expanding knowledge of ectrodactyly causes.
Area of Science:
- Genetics
- Developmental Biology
- Molecular Medicine
Background:
- Ectodermal dysplasia, ectrodactyly, and macular dystrophy (EEM) syndrome is a rare genetic disorder.
- The genetic underpinnings of EEM syndrome have not been fully elucidated.
Purpose of the Study:
- To identify the molecular cause of EEM syndrome in two families.
- To investigate the role of CDH3 mutations in EEM syndrome and human hand development.
Main Methods:
- Molecular analysis of homozygous CDH3 mutations in affected individuals.
- In situ expression analysis of Cdh3 in mouse embryos.
Main Results:
- Two distinct homozygous CDH3 mutations (a missense and a frameshift deletion) were identified in the two families.
- CDH3 expression patterns in mouse embryos correlate with EEM syndrome phenotypes.
- Identified mutations lead to altered cell-cell binding functions and non-functional proteins.
Conclusions:
- CDH3 mutations are a cause of EEM syndrome.
- This study establishes CDH3 as a novel gene involved in human hand development.
- Phenotypic variations in CDH3-related disorders are discussed.