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

Research output: Contribution to journalArticle

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 languageEnglish
Pages (from-to)1185-1189
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume146
Issue number9
DOIs
Publication statusPublished - May 1 2008

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Keywords

  • Foot anomalies
  • Holt-Oram syndrome
  • TBX5

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

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