Tags

Type your tag names separated by a space and hit enter

Holt-Oram syndrome: a new mutation in the TBX5 gene in two unrelated families.
Ann Genet 2003 Jan-Mar; 46(1):19-23AG

Abstract

Holt-Oram syndrome (HOS) is a specific developmental defect involving upper limb malformations and cardiac defects. Mutations in the TBX5 gene, located on chromosome 12q24.1, were demonstrated as the underlying molecular defect in several families with this disorder. We report on two unrelated families with HOS. Affected members of both families have the same truncation mutation in exon 5 of the TBX5 gene (Y136X). This mutation has not been reported before in HOS. The spectrum of defects is similar in both families, displaying an ASD, hypoplastic deltoid muscles and hypoplastic or absent thumbs extending to radial defects in one case. So far, only a single genotype-phenotype analysis in HOS has been done which is not sufficient to explain the high inter- and intrafamilial variability of expression. Our observation further supports that the position of the mutation in the TBX5 gene is related to the phenotype expression of HOS.

Authors+Show Affiliations

Institute of Human Genetics, University of Leipzig, Philipp-Rosenthal-Str. 55, 04103, Leipzig, Germany.No affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

12818525

Citation

Gruenauer-Kloevekorn, Claudia, and Ursula G. Froster. "Holt-Oram Syndrome: a New Mutation in the TBX5 Gene in Two Unrelated Families." Annales De Genetique, vol. 46, no. 1, 2003, pp. 19-23.
Gruenauer-Kloevekorn C, Froster UG. Holt-Oram syndrome: a new mutation in the TBX5 gene in two unrelated families. Ann Genet. 2003;46(1):19-23.
Gruenauer-Kloevekorn, C., & Froster, U. G. (2003). Holt-Oram syndrome: a new mutation in the TBX5 gene in two unrelated families. Annales De Genetique, 46(1), pp. 19-23.
Gruenauer-Kloevekorn C, Froster UG. Holt-Oram Syndrome: a New Mutation in the TBX5 Gene in Two Unrelated Families. Ann Genet. 2003;46(1):19-23. PubMed PMID: 12818525.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Holt-Oram syndrome: a new mutation in the TBX5 gene in two unrelated families. AU - Gruenauer-Kloevekorn,Claudia, AU - Froster,Ursula G, PY - 2003/6/24/pubmed PY - 2004/2/21/medline PY - 2003/6/24/entrez SP - 19 EP - 23 JF - Annales de genetique JO - Ann. Genet. VL - 46 IS - 1 N2 - Holt-Oram syndrome (HOS) is a specific developmental defect involving upper limb malformations and cardiac defects. Mutations in the TBX5 gene, located on chromosome 12q24.1, were demonstrated as the underlying molecular defect in several families with this disorder. We report on two unrelated families with HOS. Affected members of both families have the same truncation mutation in exon 5 of the TBX5 gene (Y136X). This mutation has not been reported before in HOS. The spectrum of defects is similar in both families, displaying an ASD, hypoplastic deltoid muscles and hypoplastic or absent thumbs extending to radial defects in one case. So far, only a single genotype-phenotype analysis in HOS has been done which is not sufficient to explain the high inter- and intrafamilial variability of expression. Our observation further supports that the position of the mutation in the TBX5 gene is related to the phenotype expression of HOS. SN - 0003-3995 UR - https://www.unboundmedicine.com/medline/citation/12818525/Holt_Oram_syndrome:_a_new_mutation_in_the_TBX5_gene_in_two_unrelated_families_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0003399503000066 DB - PRIME DP - Unbound Medicine ER -