NDLI: A novel RUNX2 mutation (T420I) in Chinese patients with cleidocranial dysplasia.

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A novel RUNX2 mutation (T420I) in Chinese patients with cleidocranial dysplasia.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Wang, G. X. Song, F. L. Sun, R. P.
Spatial Coverage	China
Description	Author Affiliation: Wang GX ( Department of Paediatrics, Qilu Hospital of Shandong University, Jinan, P.R. China.)
Abstract	Cleidocranial dysplasia (CCD) is an autosomal-dominant heritable skeletal disease caused by heterozygous mutations in the RUNX2 gene. We studied a Chinese family that included three affected individuals with CCD phenotypes; the clinical features of patients with CCD include delayed closure of fontanelles, frontal bossing, dysplasia of clavicles, late tooth eruption, and other skeletal anomalies. X-ray analysis showed aplasia of the clavicles. The RUNX2 gene was studied by PCR and direct sequencing of the entire coding region and the exon-intron boundaries of the gene. A novel missense mutation (c.1259C-->T[p.T420I]) in RUNX2 gene exon 7 was identified; it was found in the affected individuals in this Chinese family, but was not present in an unaffected family member or in 100 unrelated normal controls. This is the first report that gives evidence that the T420I mutation of RUNX2 is associated with CCD, expanding the spectrum of RUNX2 mutations causing CCD.
e-ISSN	16765680
Journal	Genetics and Molecular Research
Issue Number	1
Volume Number	9
Language	English
Publisher	Fundação de Pesquisas Científicas de Ribeirão Preto
Publisher Date	2010-01-12
Publisher Place	Brazil
Access Restriction	Open
Subject Keyword	Cleidocranial Dysplasia Genetics Core Binding Factor Alpha 1 Subunit Mutation, Missense Amino Acid Sequence Asian Continental Ancestry Group Child, Preschool Dna Primers Genotype Infant Pedigree Radiography Discipline Genetics Discipline Molecular Biology Discipline Bioinformatics
Content Type	Text
Resource Type	Article Case study

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