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Mutations in the RUNX2 gene in patients with cleidocranial dysplasia

โœ Scribed by Otto, Florian (author);Kanegane, Hirokazu (author);Mundlos, Stefan (author)

Publisher
John Wiley and Sons
Year
2002
Tongue
English
Weight
340 KB
Volume
19
Category
Article
ISSN
1059-7794

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Mutations in the RUNX2 gene in patients
Mutations in the RUNX2 gene in patients with cleidocranial dysplasia
โœ Otto, Florian (author);Kanegane, Hirokazu (author);Mundlos, Stefan (author) ๐Ÿ“‚ Article ๐Ÿ“… 2002 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 340 KB ๐Ÿ‘ 1 views

## Communicated by Gregg Semenza Cleidocranial dysplasia (CCD) is a autosomal dominant disorder characterized by skeletal anomalies such as patent fontanels, late closure of cranial sutures with Wormian bones, late erupting secondary dentition, rudimentary clavicles, and short stature. The locus f

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We report clinical and molecular findings in 14 patients with cleidocranial dysplasia (CCD), a well defined skeletal disorder with characteristic clinical findings and autosomal dominant inheritance. We identified ten heterozygous base changes in the RUNX2 gene, including six novel mutations [c.522i

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Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia
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Cleidocranial Dysplasia (CCD) is an autosomal dominant skeletal disorder characterized by hypoplastic or absent clavicles, increased head circumference, large fontanels, dental anomalies, and short stature. Hand malformations are also common. Mutations in RUNX2 cause CCD, but are not identified in a

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## Abstract Cleidocranial dysplasia (CCD) is an autosomal dominant disorder caused by haploinsufficiency of the __RUNX2__ gene. In this study, we analyzed by direct sequencing __RUNX2__ mutations from eleven CCD patients. Four of seven mutations were novel: two nonsense mutations resulted in a tran