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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.

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  • Authors+Show Affiliations

    ,

    Clinical Genetics Unit, Obstetric and Pediatric Department, S. Maria Nuova Hospital, Reggio Emilia, Italy.

    , , , , , , , , , , , , ,

    Source

    MeSH

    Abnormalities, Multiple
    Adolescent
    Adult
    Codon, Nonsense
    DNA Mutational Analysis
    Female
    Foot Deformities, Congenital
    Heart Defects, Congenital
    Humans
    Male
    Pedigree
    Syndrome
    T-Box Domain Proteins
    Upper Extremity Deformities, Congenital

    Pub Type(s)

    Case Reports
    Journal Article

    Language

    eng

    PubMed ID

    18351627

    Citation

    Garavelli, L, et al. "Holt-Oram Syndrome Associated With Anomalies of the Feet." American Journal of Medical Genetics. Part A, vol. 146A, no. 9, 2008, pp. 1185-9.
    Garavelli L, De Brasi D, Verri R, et al. Holt-Oram syndrome associated with anomalies of the feet. Am J Med Genet A. 2008;146A(9):1185-9.
    Garavelli, L., De Brasi, D., Verri, R., Guareschi, E., Cariola, F., Melis, D., ... Gentile, M. (2008). Holt-Oram syndrome associated with anomalies of the feet. American Journal of Medical Genetics. Part A, 146A(9), pp. 1185-9. doi:10.1002/ajmg.a.32170.
    Garavelli L, et al. Holt-Oram Syndrome Associated With Anomalies of the Feet. Am J Med Genet A. 2008 May 1;146A(9):1185-9. PubMed PMID: 18351627.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Holt-Oram syndrome associated with anomalies of the feet. 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 - 2008/3/21/pubmed PY - 2008/5/23/medline PY - 2008/3/21/entrez SP - 1185 EP - 9 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 146A IS - 9 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. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/18351627/Holt_Oram_syndrome_associated_with_anomalies_of_the_feet_ L2 - https://doi.org/10.1002/ajmg.a.32170 DB - PRIME DP - Unbound Medicine ER -