Six novel mutations of the RUNX2 gene in Italian patients with cleidocranial dysplasia.

Alessandra Tessa; Sergio Salvi; Carlo Casali; Livia Garavelli; M. Cristina Digilio; M. Teresa Dotti; Silvia Di Giandomenico; Manuela Valoppi; Gaetano S. Grieco; Giovanna Comanducci; Giacomo Bianchini; Daniela Fortini; Antonio Federico; Aldo Giannotti; Filippo M. Santorelli

Six novel mutations of the RUNX2 gene in Italian patients with cleidocranial dysplasia.

Alessandra Tessa, Sergio Salvi, Carlo Casali, Livia Garavelli, M. Cristina Digilio, M. Teresa Dotti, Silvia Di Giandomenico, Manuela Valoppi, Gaetano S. Grieco, Giovanna Comanducci, Giacomo Bianchini, Daniela Fortini, Antonio Federico, Aldo Giannotti, Filippo M. Santorelli

Research output: Contribution to journal › Article › peer-review

Abstract

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.

Original language	English
Pages (from-to)	104
Number of pages	1
Journal	Human Mutation
Volume	22
Issue number	1
Publication status	Published - Jul 2003

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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Six novel mutations of the RUNX2 gene in Italian patients with cleidocranial dysplasia. / Tessa, Alessandra; Salvi, Sergio; Casali, Carlo; Garavelli, Livia ; Digilio, M. Cristina; Dotti, M. Teresa; Di Giandomenico, Silvia; Valoppi, Manuela; Grieco, Gaetano S.; Comanducci, Giovanna; Bianchini, Giacomo; Fortini, Daniela; Federico, Antonio; Giannotti, Aldo; Santorelli, Filippo M.

In: Human Mutation, Vol. 22, No. 1, 07.2003, p. 104.

Research output: Contribution to journal › Article › peer-review

Tessa, Alessandra ; Salvi, Sergio ; Casali, Carlo ; Garavelli, Livia ; Digilio, M. Cristina ; Dotti, M. Teresa ; Di Giandomenico, Silvia ; Valoppi, Manuela ; Grieco, Gaetano S. ; Comanducci, Giovanna ; Bianchini, Giacomo ; Fortini, Daniela ; Federico, Antonio ; Giannotti, Aldo ; Santorelli, Filippo M. / Six novel mutations of the RUNX2 gene in Italian patients with cleidocranial dysplasia. In: Human Mutation. 2003 ; Vol. 22, No. 1. pp. 104.

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title = "Six novel mutations of the RUNX2 gene in Italian patients with cleidocranial dysplasia.",

abstract = "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.",

author = "Alessandra Tessa and Sergio Salvi and Carlo Casali and Livia Garavelli and Digilio, {M. Cristina} and Dotti, {M. Teresa} and {Di Giandomenico}, Silvia and Manuela Valoppi and Grieco, {Gaetano S.} and Giovanna Comanducci and Giacomo Bianchini and Daniela Fortini and Antonio Federico and Aldo Giannotti and Santorelli, {Filippo M.}",

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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.

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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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