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Holt-Oram syndrome associated with anomalies of the feet.
Am J Med Genet A 2008; 146A(9):1185-9AJ

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.

Authors+Show Affiliations

Clinical Genetics Unit, Obstetric and Pediatric Department, S. Maria Nuova Hospital, Reggio Emilia, Italy.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

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 -