{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,10]],"date-time":"2026-07-10T02:20:21Z","timestamp":1783650021858,"version":"3.55.0"},"reference-count":21,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2005,4]]},"abstract":"<jats:p>\n                  <jats:bold>Background:<\/jats:bold> EEM syndrome is the rare association of ectodermal dysplasia, ectrodactyly, and macular dystrophy (OMIM 225280).<\/jats:p>\n               <jats:p>\n                  <jats:bold>Methods:<\/jats:bold> We here demonstrate through molecular analysis that EEM is caused by distinct homozygous <jats:italic>CDH3<\/jats:italic> mutations in two previously published families.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Results:<\/jats:bold> In family 1, a missense mutation (c.965A\u2192T) causes a change of amino acid 322 from asparagine to isoleucine; this amino acid is located in a highly conserved motif likely to affect Ca<jats:sup>2+<\/jats:sup> 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 and its extracellular cadherin repeats 3\u20135. Our mouse in situ expression data demonstrate that <jats:italic>Cdh3<\/jats:italic> is expressed in the apical ectodermal ridge from E10.5 to E12.5, and later in the interdigital mesenchyme, a pattern compatible with the EEM phenotype. Furthermore, we discuss possible explanations for the phenotypic differences between EEM and congenital hypotrichosis with juvenile macular dystrophy (HJMD), which is also caused by <jats:italic>CDH3<\/jats:italic> mutations.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Conclusions:<\/jats:bold> In summary, we have ascertained a third gene associated with ectrodactyly and have demonstrated a hitherto unrecognised role of CDH3 in shaping the human hand.<\/jats:p>","DOI":"10.1136\/jmg.2004.027821","type":"journal-article","created":{"date-parts":[[2005,4,1]],"date-time":"2005-04-01T17:10:20Z","timestamp":1112375420000},"page":"292-298","source":"Crossref","is-referenced-by-count":107,"title":["Distinct <i>CDH3<\/i> mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome)"],"prefix":"10.1136","volume":"42","author":[{"given":"K 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