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TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome.
Pediatr Res. 2005 Nov; 58(5):981-6.PR

Abstract

Holt-Oram syndrome (HOS) is an autosomal dominant heart-hand syndrome characterized by congenital heart disease (CHD) and upper limb deformity, and caused by mutations in the TBX5 gene. To date, the sensitivity of TBX5 genetic testing for HOS has been unclear. We now report mutational analyses of a nongenetically selected population of 54 unrelated individuals who were consecutively referred to our center with a clinical diagnosis of HOS. TBX5 mutational analyses were performed in all individuals, and clinical histories and findings were reviewed for each patient without reference to the genotypes. Twenty-six percent of the complete cohort was shown to have mutations of the TBX5 gene. However, among those subjects for whom clinical review demonstrated that their presentations met strict diagnostic criteria for HOS, TBX5 mutations were identified in 74%. No mutations were identified in those subjects who did not meet these criteria. Thus, these studies validate our clinical diagnostic criteria for HOS including an absolute requirement for preaxial radial ray upper limb malformation. Accordingly, TBX5 genotyping has high sensitivity and specificity for HOS if stringent diagnostic criteria are used in assigning the clinical diagnosis.

Authors+Show Affiliations

Department of Medicine, Weill Medical College of Cornell University, New York, New York 10021, USA.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 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
Validation Study

Language

eng

PubMed ID

16183809

Citation

McDermott, Deborah A., et al. "TBX5 Genetic Testing Validates Strict Clinical Criteria for Holt-Oram Syndrome." Pediatric Research, vol. 58, no. 5, 2005, pp. 981-6.
McDermott DA, Bressan MC, He J, et al. TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome. Pediatr Res. 2005;58(5):981-6.
McDermott, D. A., Bressan, M. C., He, J., Lee, J. S., Aftimos, S., Brueckner, M., Gilbert, F., Graham, G. E., Hannibal, M. C., Innis, J. W., Pierpont, M. E., Raas-Rothschild, A., Shanske, A. L., Smith, W. E., Spencer, R. H., St John-Sutton, M. G., van Maldergem, L., Waggoner, D. J., Weber, M., & Basson, C. T. (2005). TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome. Pediatric Research, 58(5), 981-6.
McDermott DA, et al. TBX5 Genetic Testing Validates Strict Clinical Criteria for Holt-Oram Syndrome. Pediatr Res. 2005;58(5):981-6. PubMed PMID: 16183809.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome. AU - McDermott,Deborah A, AU - Bressan,Michael C, AU - He,Jie, AU - Lee,Joseph S, AU - Aftimos,Salim, AU - Brueckner,Martina, AU - Gilbert,Fred, AU - Graham,Gail E, AU - Hannibal,Mark C, AU - Innis,Jeffrey W, AU - Pierpont,Mary Ella, AU - Raas-Rothschild,Annick, AU - Shanske,Alan L, AU - Smith,Wendy E, AU - Spencer,Robert H, AU - St John-Sutton,Martin G, AU - van Maldergem,Lionel, AU - Waggoner,Darrel J, AU - Weber,Matthew, AU - Basson,Craig T, Y1 - 2005/09/23/ PY - 2005/9/27/pubmed PY - 2006/1/5/medline PY - 2005/9/27/entrez SP - 981 EP - 6 JF - Pediatric research JO - Pediatr. Res. VL - 58 IS - 5 N2 - Holt-Oram syndrome (HOS) is an autosomal dominant heart-hand syndrome characterized by congenital heart disease (CHD) and upper limb deformity, and caused by mutations in the TBX5 gene. To date, the sensitivity of TBX5 genetic testing for HOS has been unclear. We now report mutational analyses of a nongenetically selected population of 54 unrelated individuals who were consecutively referred to our center with a clinical diagnosis of HOS. TBX5 mutational analyses were performed in all individuals, and clinical histories and findings were reviewed for each patient without reference to the genotypes. Twenty-six percent of the complete cohort was shown to have mutations of the TBX5 gene. However, among those subjects for whom clinical review demonstrated that their presentations met strict diagnostic criteria for HOS, TBX5 mutations were identified in 74%. No mutations were identified in those subjects who did not meet these criteria. Thus, these studies validate our clinical diagnostic criteria for HOS including an absolute requirement for preaxial radial ray upper limb malformation. Accordingly, TBX5 genotyping has high sensitivity and specificity for HOS if stringent diagnostic criteria are used in assigning the clinical diagnosis. SN - 0031-3998 UR - https://www.unboundmedicine.com/medline/citation/16183809/TBX5_genetic_testing_validates_strict_clinical_criteria_for_Holt_Oram_syndrome_ L2 - http://dx.doi.org/10.1203/01.PDR.0000182593.95441.64 DB - PRIME DP - Unbound Medicine ER -