TY - JOUR
T1 - Six novel mutations of the RUNX2 gene in Italian patients with cleidocranial dysplasia.
AU - Tessa, Alessandra
AU - Salvi, Sergio
AU - Casali, Carlo
AU - Garavelli, Livia
AU - Digilio, M. Cristina
AU - Dotti, M. Teresa
AU - Di Giandomenico, Silvia
AU - Valoppi, Manuela
AU - Grieco, Gaetano S.
AU - Comanducci, Giovanna
AU - Bianchini, Giacomo
AU - Fortini, Daniela
AU - Federico, Antonio
AU - Giannotti, Aldo
AU - Santorelli, Filippo M.
PY - 2003/7
Y1 - 2003/7
N2 - 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.522insA, c.389G>A (W130X), c.662T>G (V221G), IVS2+T>A, c.1111_1129del19, and c.873_874delCA]. We did not establish a clear correlation between clinical features and genotype, the phenotypes of all patients analyzed falling within the range of variation described in CCD without an effect related to the length of the predicted protein. In two cases, however, a limb-girdle myopathy affecting the shoulder muscles was also identified. Our data add new variants to the repertoire of RUNX2 mutations in CCD.
AB - 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.522insA, c.389G>A (W130X), c.662T>G (V221G), IVS2+T>A, c.1111_1129del19, and c.873_874delCA]. We did not establish a clear correlation between clinical features and genotype, the phenotypes of all patients analyzed falling within the range of variation described in CCD without an effect related to the length of the predicted protein. In two cases, however, a limb-girdle myopathy affecting the shoulder muscles was also identified. Our data add new variants to the repertoire of RUNX2 mutations in CCD.
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M3 - Article
C2 - 12815605
AN - SCOPUS:20244364483
VL - 22
SP - 104
JO - Human Mutation
JF - Human Mutation
SN - 1059-7794
IS - 1
ER -