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Novel TBX5 duplication in a Japanese family with Holt-Oram syndrome.
Pediatr Cardiol. 2015 Jan; 36(1):244-7.PC

Abstract

Holt-Oram syndrome is an autosomal dominant disorder characterized by upper limb malformations in the preaxial radial ray and cardiac septation and/or a conduction abnormality. It has been demonstrated that Holt-Oram syndrome is caused by mutations in the T-box transcription factor gene TBX5. Numerous germline mutations (more than 90) of this gene have been reported; however, TBX5 mutations are only identified in up to 74% of typical Holt-Oram syndrome patients. We report a Japanese family with 2 affected individuals with the typical Holt-Oram syndrome phenotype, namely bilateral asymmetrical radial ray deformities and an atrial septal defect. An array-based comparative genomic hybridization study revealed an 11-kb duplication at 12q24.1. Moreover, a multiplex ligation-dependent probe amplification study confirmed the duplication of exons 1-6 of TBX5. Although a small duplication in TBX5 (6 bases) has been reported, a large duplication of this gene has not been described previously in typical Holt-Oram syndrome patients. All typical Holt-Oram syndrome cases in which a mutation is not identified should be screened for TBX5 exon duplications.

Authors+Show Affiliations

Department of Pediatrics, Tohoku University Graduate School of Medicine, 1-1 Seiryocho, Aoba-ku, Sendai, Miyagi, 980-8574, Japan, mkimura774@med.tohoku.ac.jp.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

25274398

Citation

Kimura, Masato, et al. "Novel TBX5 Duplication in a Japanese Family With Holt-Oram Syndrome." Pediatric Cardiology, vol. 36, no. 1, 2015, pp. 244-7.
Kimura M, Kikuchi A, Ichinoi N, et al. Novel TBX5 duplication in a Japanese family with Holt-Oram syndrome. Pediatr Cardiol. 2015;36(1):244-7.
Kimura, M., Kikuchi, A., Ichinoi, N., & Kure, S. (2015). Novel TBX5 duplication in a Japanese family with Holt-Oram syndrome. Pediatric Cardiology, 36(1), 244-7. https://doi.org/10.1007/s00246-014-1028-x
Kimura M, et al. Novel TBX5 Duplication in a Japanese Family With Holt-Oram Syndrome. Pediatr Cardiol. 2015;36(1):244-7. PubMed PMID: 25274398.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Novel TBX5 duplication in a Japanese family with Holt-Oram syndrome. AU - Kimura,Masato, AU - Kikuchi,Atsuo, AU - Ichinoi,Natsuko, AU - Kure,Shigeo, Y1 - 2014/10/02/ PY - 2014/04/11/received PY - 2014/09/23/accepted PY - 2014/10/3/entrez PY - 2014/10/3/pubmed PY - 2015/7/17/medline SP - 244 EP - 7 JF - Pediatric cardiology JO - Pediatr Cardiol VL - 36 IS - 1 N2 - Holt-Oram syndrome is an autosomal dominant disorder characterized by upper limb malformations in the preaxial radial ray and cardiac septation and/or a conduction abnormality. It has been demonstrated that Holt-Oram syndrome is caused by mutations in the T-box transcription factor gene TBX5. Numerous germline mutations (more than 90) of this gene have been reported; however, TBX5 mutations are only identified in up to 74% of typical Holt-Oram syndrome patients. We report a Japanese family with 2 affected individuals with the typical Holt-Oram syndrome phenotype, namely bilateral asymmetrical radial ray deformities and an atrial septal defect. An array-based comparative genomic hybridization study revealed an 11-kb duplication at 12q24.1. Moreover, a multiplex ligation-dependent probe amplification study confirmed the duplication of exons 1-6 of TBX5. Although a small duplication in TBX5 (6 bases) has been reported, a large duplication of this gene has not been described previously in typical Holt-Oram syndrome patients. All typical Holt-Oram syndrome cases in which a mutation is not identified should be screened for TBX5 exon duplications. SN - 1432-1971 UR - https://www.unboundmedicine.com/medline/citation/25274398/Novel_TBX5_duplication_in_a_Japanese_family_with_Holt_Oram_syndrome_ L2 - https://dx.doi.org/10.1007/s00246-014-1028-x DB - PRIME DP - Unbound Medicine ER -