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Genetic heterogeneity of heart-hand syndromes.
Circulation 1995; 91(5):1326-9Circ

Abstract

BACKGROUND

Heart-hand syndromes compose a class of combined congenital cardiac and limb deformities. The proto-typical heart-hand disorder is Holt-Oram syndrome, which is characterized by cardiac septation defects and radial ray limb deformity. We have recently mapped the Holt-Oram syndrome gene defect to the long arm of human chromosome 12 in two families. The role of this disease locus in the pathogenesis of related conditions such as heart-hand syndrome type III (cardiac conduction disease accompanied by skeletal malformations) or familial atrial septal defects is unknown.

METHODS AND RESULTS

Clinical evaluations and genetic linkage analyses were performed in five additional kindreds with Holt-Oram syndrome and also in one kindred with heart-hand syndrome type III and one kindred with familial atrial septal defect and conduction disease. Holt-Oram syndrome in all five kindreds mapped to chromosome 12q2. These studies and previous data provide odds of greater than 10(25):1 that the Holt-Oram syndrome disease gene is at chromosome 12q2. In contrast, neither the phenotypically similar disorder heart-hand syndrome type III nor the locus responsible for a familial atrial septal defect with atrioventricular block maps to chromosome 12q2.

CONCLUSIONS

We demonstrate that heart-hand syndromes are genetically heterogeneous. Conditions that clinically appear to be partial phenocopies of Holt-Oram syndrome arise from distinct disease genes.

Authors+Show Affiliations

Department of Medicine-Cardiovascular Division, Brigham and Women's Hospital, Boston, Mass.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 available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

7867169

Citation

Basson, C T., et al. "Genetic Heterogeneity of Heart-hand Syndromes." Circulation, vol. 91, no. 5, 1995, pp. 1326-9.
Basson CT, Solomon SD, Weissman B, et al. Genetic heterogeneity of heart-hand syndromes. Circulation. 1995;91(5):1326-9.
Basson, C. T., Solomon, S. D., Weissman, B., MacRae, C. A., Poznanski, A. K., Prieto, F., ... Holmes, L. B. (1995). Genetic heterogeneity of heart-hand syndromes. Circulation, 91(5), pp. 1326-9.
Basson CT, et al. Genetic Heterogeneity of Heart-hand Syndromes. Circulation. 1995 Mar 1;91(5):1326-9. PubMed PMID: 7867169.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Genetic heterogeneity of heart-hand syndromes. A1 - Basson,C T, AU - Solomon,S D, AU - Weissman,B, AU - MacRae,C A, AU - Poznanski,A K, AU - Prieto,F, AU - Ruiz de la Fuente,S, AU - Pease,W E, AU - Levin,S E, AU - Holmes,L B, PY - 1995/3/1/pubmed PY - 1995/3/1/medline PY - 1995/3/1/entrez SP - 1326 EP - 9 JF - Circulation JO - Circulation VL - 91 IS - 5 N2 - BACKGROUND: Heart-hand syndromes compose a class of combined congenital cardiac and limb deformities. The proto-typical heart-hand disorder is Holt-Oram syndrome, which is characterized by cardiac septation defects and radial ray limb deformity. We have recently mapped the Holt-Oram syndrome gene defect to the long arm of human chromosome 12 in two families. The role of this disease locus in the pathogenesis of related conditions such as heart-hand syndrome type III (cardiac conduction disease accompanied by skeletal malformations) or familial atrial septal defects is unknown. METHODS AND RESULTS: Clinical evaluations and genetic linkage analyses were performed in five additional kindreds with Holt-Oram syndrome and also in one kindred with heart-hand syndrome type III and one kindred with familial atrial septal defect and conduction disease. Holt-Oram syndrome in all five kindreds mapped to chromosome 12q2. These studies and previous data provide odds of greater than 10(25):1 that the Holt-Oram syndrome disease gene is at chromosome 12q2. In contrast, neither the phenotypically similar disorder heart-hand syndrome type III nor the locus responsible for a familial atrial septal defect with atrioventricular block maps to chromosome 12q2. CONCLUSIONS: We demonstrate that heart-hand syndromes are genetically heterogeneous. Conditions that clinically appear to be partial phenocopies of Holt-Oram syndrome arise from distinct disease genes. SN - 0009-7322 UR - https://www.unboundmedicine.com/medline/citation/7867169/Genetic_heterogeneity_of_heart_hand_syndromes_ L2 - http://www.ahajournals.org/doi/full/10.1161/01.cir.91.5.1326?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub=pubmed DB - PRIME DP - Unbound Medicine ER -