Holt-Oram syndrome associated with anomalies of the feet

L. Garavelli; D. De Brasi; R. Verri; E. Guareschi; F. Cariola; D. Melis; G. Calcagno; F. Salvatore; S. Unger; G. Sebastio; G. Albertini; F. Rivieri; F. Soli; A. Superti-Furga; M. Gentile

doi:10.1002/ajmg.a.32170

Holt-Oram syndrome associated with anomalies of the feet

L. Garavelli, D. De Brasi, R. Verri, E. Guareschi, F. Cariola, D. Melis, G. Calcagno, F. Salvatore, S. Unger, G. Sebastio, G. Albertini, F. Rivieri, F. Soli, A. Superti-Furga, M. Gentile

Arcispedale Santa Maria Nuova

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Abstract

Holt-Oram syndrome (HOS) (OMIM 142900) is characterized by upper-extremity malformations involving the radial, thenar, or carpal bones and a personal and/or family history of congenital heart defects (CHDs). It is inherited in an autosomal dominant manner. The TBX5 gene located on chromosome 12 (12q24.1) is the only gene currently known to be associated with HOS and is associated with variable phenotypes. We report on the clinical and molecular characterization of a HOS family with three affected individuals and a novel mutation (Lys88ter). We discuss genotype-phenotype correlations, the presence of foot anomalies in one affected individual, and the role of atypical features in HOS differential diagnosis.

Original language	English
Pages (from-to)	1185-1189
Number of pages	5
Journal	American Journal of Medical Genetics, Part A
Volume	146
Issue number	9
DOIs	https://doi.org/10.1002/ajmg.a.32170
Publication status	Published - May 1 2008

Keywords

Foot anomalies
Holt-Oram syndrome
TBX5

ASJC Scopus subject areas

Genetics(clinical)

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10.1002/ajmg.a.32170

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Garavelli, L., De Brasi, D., Verri, R., Guareschi, E., Cariola, F., Melis, D., Calcagno, G., Salvatore, F., Unger, S., Sebastio, G., Albertini, G., Rivieri, F., Soli, F., Superti-Furga, A., & Gentile, M. (2008). Holt-Oram syndrome associated with anomalies of the feet. American Journal of Medical Genetics, Part A, 146(9), 1185-1189. https://doi.org/10.1002/ajmg.a.32170

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title = "Holt-Oram syndrome associated with anomalies of the feet",

abstract = "Holt-Oram syndrome (HOS) (OMIM 142900) is characterized by upper-extremity malformations involving the radial, thenar, or carpal bones and a personal and/or family history of congenital heart defects (CHDs). It is inherited in an autosomal dominant manner. The TBX5 gene located on chromosome 12 (12q24.1) is the only gene currently known to be associated with HOS and is associated with variable phenotypes. We report on the clinical and molecular characterization of a HOS family with three affected individuals and a novel mutation (Lys88ter). We discuss genotype-phenotype correlations, the presence of foot anomalies in one affected individual, and the role of atypical features in HOS differential diagnosis.",

keywords = "Foot anomalies, Holt-Oram syndrome, TBX5",

author = "L. Garavelli and {De Brasi}, D. and R. Verri and E. Guareschi and F. Cariola and D. Melis and G. Calcagno and F. Salvatore and S. Unger and G. Sebastio and G. Albertini and F. Rivieri and F. Soli and A. Superti-Furga and M. Gentile",

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AU - Garavelli, L.

AU - De Brasi, D.

AU - Verri, R.

AU - Guareschi, E.

AU - Cariola, F.

AU - Melis, D.

AU - Calcagno, G.

AU - Salvatore, F.

AU - Unger, S.

AU - Sebastio, G.

AU - Albertini, G.

AU - Rivieri, F.

AU - Soli, F.

AU - Superti-Furga, A.

AU - Gentile, M.

PY - 2008/5/1

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N2 - Holt-Oram syndrome (HOS) (OMIM 142900) is characterized by upper-extremity malformations involving the radial, thenar, or carpal bones and a personal and/or family history of congenital heart defects (CHDs). It is inherited in an autosomal dominant manner. The TBX5 gene located on chromosome 12 (12q24.1) is the only gene currently known to be associated with HOS and is associated with variable phenotypes. We report on the clinical and molecular characterization of a HOS family with three affected individuals and a novel mutation (Lys88ter). We discuss genotype-phenotype correlations, the presence of foot anomalies in one affected individual, and the role of atypical features in HOS differential diagnosis.

AB - Holt-Oram syndrome (HOS) (OMIM 142900) is characterized by upper-extremity malformations involving the radial, thenar, or carpal bones and a personal and/or family history of congenital heart defects (CHDs). It is inherited in an autosomal dominant manner. The TBX5 gene located on chromosome 12 (12q24.1) is the only gene currently known to be associated with HOS and is associated with variable phenotypes. We report on the clinical and molecular characterization of a HOS family with three affected individuals and a novel mutation (Lys88ter). We discuss genotype-phenotype correlations, the presence of foot anomalies in one affected individual, and the role of atypical features in HOS differential diagnosis.

KW - Foot anomalies

KW - Holt-Oram syndrome

KW - TBX5

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IS - 9

ER -

Holt-Oram syndrome associated with anomalies of the feet

Abstract

Keywords

ASJC Scopus subject areas

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