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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Severe Cleidocranial dysplasia and hypophosphatasia in a child with microdeletion of the C-terminal region of RUNX2
American Journal of Medical Genetics, Part A, Volume 152, No. 1, Year 2010
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Description
Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal dysplasia due to mutations causing haploinsufficiency of RUNX2, an osteoblast transcription factor specific for bone and cartilage. The classic form of CCD is characterized by delayed closure of the fontanels, hypoplastic or aplastic clavicles and dental anomalies. Clinical reports suggest that a subset of patients with CCD have skeletal changes which mimic hypophosphatasia (HPP). Mutations in RUNX2 are detected in approximately 65% of cases of CCD, and microdeletions occur in 13%. We present clinical and radiological features in a 6-year-old child with severe CCD manifested by absence of the clavicles marked calvarial hypomineralization, osteoporosis and progressive kyphoscoliosis. HPP features included Bowdler spurs, severe osteopenia, and low alkaline phosphatase. Following negative mutation analysis of RUNX2, comparative genomic hybridization (CGH) microarray was performed. The result revealed a microdeletion in RUNX2, disrupting the C-terminal part of the gene. © 2009 Wiley-Liss, Inc.
Authors & Co-Authors
El-Gharbawy, Areeg H.
Egypt, Cairo
Faculty of Medicine
United States, Los Angeles
Cedars-sinai Medical Center
Peeden, Joseph N.
United States, Knoxville
East Tennessee Children's Hospital
Lachman, Ralph S.
United States, Los Angeles
Cedars-sinai Medical Center
United States, Los Angeles
David Geffen School of Medicine at Ucla
Graham, John M.
United States, Los Angeles
Cedars-sinai Medical Center
United States, Los Angeles
David Geffen School of Medicine at Ucla
Moore, Stephen R.
United States, Los Angeles
Cedars-sinai Medical Center
Rimoin, David L.
United States, Los Angeles
Cedars-sinai Medical Center
United States, Los Angeles
David Geffen School of Medicine at Ucla
Statistics
Citations: 38
Authors: 6
Affiliations: 4
Identifiers
Doi:
10.1002/ajmg.a.33146
ISSN:
15524825
e-ISSN:
15524833
Research Areas
Cancer
Genetics And Genomics
Health System And Policy
Maternal And Child Health
Noncommunicable Diseases