Familial pycnodysostosis: identification of a novel mutation in the CTSK gene (cathepsin K)
BACKGROUNDPycnodysostosis, an autosomal recessive skeletal dysplasia, is characterized by short stature, osteosclerosis, delayed cranial suture closure, hypoplastic mandible, acro-osteolysis, hypoplastic clavicle, and dental anomalies. The disorder is caused by CTSK gene defects, a gene localized on...
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Published in | Journal of investigative medicine Vol. 59; no. 2; pp. 277 - 280 |
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Main Authors | , , , , , |
Format | Journal Article |
Language | English |
Published |
01.02.2011
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Online Access | Get full text |
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Summary: | BACKGROUNDPycnodysostosis, an autosomal recessive skeletal dysplasia, is characterized by short stature, osteosclerosis, delayed cranial suture closure, hypoplastic mandible, acro-osteolysis, hypoplastic clavicle, and dental anomalies. The disorder is caused by CTSK gene defects, a gene localized on 1q21.PURPOSETo describe the clinical, radiological, and molecular findings in a family with pycnodysostosis.METHODSThe CTSK gene was analyzed from genomic DNA in a nonconsanguinity Mexican family with 3 affected members with pycnodysostosis and 100 healthy controls.RESULTS AND INTERPRETATIONWe identified the novel homozygous mutation c.908G>A within exon 8 of the CTSK gene. This missense mutation leads to the substitution of the amino acid glycine at position 303 by glutamic acid (G303E) in cathepsin K protease. No genotype/phenotype correlation was present in affected members of the family with pycnodysostosis. |
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Bibliography: | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 |
ISSN: | 1708-8267 |
DOI: | 10.231/JIM.0b013e318202a9db |