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Haplotype insufficiency causes cleidocranial dysplasia (CCD), a syndrome featuring supernumerary tooth buds, delayed tooth eruption, patent fontanels, Wormian bones, short stature, dysplasia of the clavicles, growth retardation and hypoplasia of the distal phalanges. We identified novel <jats:italic>CBFA1<\/jats:italic>\/<jats:italic>RUNX2<\/jats:italic> mutations after PCR and direct sequencing of patient leukocyte DNA. In family 1 mother and son are affected by CCD. Both carry the missense mutation R190W (CGG &gt; TGG). This nucleotide change introduced a <jats:italic>Bsm<\/jats:italic>I restriction site, which was used to independently confirm the mutation. It was absent in healthy members of the family. Family 2, in which father and daughter are affected by CCD, shows a deletion of nucleotide C821. This deletion causes a frameshift mutation with premature stop after the insertion of 18 aberrant amino acids. Healthy family members did not have this mutation. The clavicular dysplasia was more pronounced with the R190W mutation, while the bone density was markedly reduced in individuals with either mutation, suggesting a previously underemphasized increased risk for osteoporosis in CCD.<\/jats:p>","DOI":"10.1023\/a:1012758925617","type":"journal-article","created":{"date-parts":[[2002,12,23]],"date-time":"2002-12-23T14:27:29Z","timestamp":1040653649000},"page":"648-656","source":"Crossref","is-referenced-by-count":28,"title":["Identification of novel CBFA1\/RUNX2 mutations causing cleidocranial dysplasia"],"prefix":"10.1002","volume":"24","author":[{"given":"C.","family":"Bergwitz","sequence":"first","affiliation":[{"name":"Abteilung f\u00fc r Klinische Endokrinologie  Hochschule Hannover Hannover Germany"},{"name":"Department of Medicine Massachusetts General Hospital  Blossom St. Boston MA 02114 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