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Patient Reports: Two Novel Frameshift Mutations in the SOX9 Gene in Two Patients with Campomelic Dysplasia who showed Long-Term Survival
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Toshio Okamoto
Published/Copyright:
December 22, 2010
ABSTRACT
Campomelic dysplasia (CD) is a rare and usually fatal congenital skeletal disorder with respiratory failure. The SOX9 gene has been cloned as a candidate gene for CD. Here, we report the cases of 2 Japanese patients with CD who have survived for over 5 years. Molecular investigations revealed novel frameshift mutations in SOX9 in these patients; a single G insertion in 1 allele at nucleotide 261 (261-262insG) and a single C insertion in 1 allele at nucleotide 888 (888-889insC). The predicted protein of 261-262insG may lack more than 80% composition of the normal SOX9 protein, including the SRY high mobility group (HMG) domain and the transactivation (TA) domain; the predicted protein of 888-889insC may not contain the normal TA domain. Although it has been reported that most patients with CD die during the neonatal period, our patients have survived for a long time, despite putative severely impaired SOX9 proteins.
KEY WORDS: campomelic dysplasia; SOX9; novel mutations; long-term survival; genotype-phenotype correlation
Published Online: 2010-12-22
Published in Print: 2010-November
© Freund Publishing House Ltd. 2010
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Keywords for this article
campomelic dysplasia;
SOX9;
novel mutations;
long-term survival;
genotype-phenotype correlation
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- Smith-Lemli-Opitz Syndrome: Autopsy with New Morphological Findings
- Common Skeletal Growth Retardation Disorders Resulting from Abnormalities within the Mesenchymal Stem Cells Reservoirs in the Epiphyseal Organs Pertaining to the Long Bones
- Disorders of Sexual Development: An Overview of 18 Years Experience in the Pediatric Endocrinology Department of Ankara University
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