Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome).

ABSTRACT:

Background

EEM syndrome is the rare association of ectodermal dysplasia, ectrodactyly, and macular dystrophy.

Methods

We here demonstrate through molecular analysis that EEM is caused by distinct homozygous CDH3 mutations in two previously published families.

Results

In family 1, a missense mutation (c.965A-->T) causes a change of amino acid 322 from asparagine to isoleucine; this amino acid is located in a highly conserved motif likely to affect Ca2+ binding affecting specificity of the cell-cell binding function. In family 2, a homozygous frameshift deletion (c.829delG) introduces a truncated fusion protein with a premature stop codon at amino acid residue 295, expected to cause a non-functional protein lacking both its intracellular and membrane spanning domains an

SUBMITTER: Kjaer KW 

PROVIDER: S-EPMC1736041 | biostudies-literature | 2005 Apr

REPOSITORIES: biostudies-literature