Tags

Type your tag names separated by a space and hit enter

A new mutation in the TBX5 gene in Holt-Oram syndrome: two cases in the same family and prenatal diagnosis.
J Trop Pediatr 2014; 60(3):257-9JT

Abstract

Holt-Oram Syndrome (HOS) is a rare autosomal dominant condition characterized by anomalies of the upper extremity and cardiac malformations. Mutations in the TBX5 gene are what cause HOS. The proband is an 8-year-old male who presented with upper-extremity abnormalities and a chest deformity. He was born to a nonconsanguineous marriage at full term. He has a history of ventricular septal defect. His mother presented with deformation in both hands and forearms, and was 9 weeks' pregnant. Mutation analysis for TBX5 gene revealed heterozygous p.L65Qfs*10 in both the patient and his mother. Molecular analysis of the fetus was normal for TBX5 gene in the 13th week of pregnancy. In conclusion, our case supports the fact that the HOS presents differently, case by case, even within the same family. The novel mutation reported here and phenotypic findings in the affected members may contribute to the phenotype-genotype correlation.

Authors+Show Affiliations

Faculty of Medicine, Division of Pediatric Genetics, Department of Pediatrics, Ege University, Izmir, Turkey tahiratik@yahoo.com.Faculty of Medicine, Department of Pediatrics, Ege University, Izmir, Turkey.Faculty of Medicine, Department of Medical Genetics, Ege University, Izmir, Turkey.Faculty of Medicine, Division of Pediatric Genetics, Department of Pediatrics, Ege University, Izmir, TurkeyFaculty of Medicine, Department of Pediatrics, Ege University, Izmir, TurkeyFaculty of Medicine, Department of Medical Genetics, Ege University, Izmir, Turkey.Faculty of Medicine, Division of Pediatric Genetics, Department of Pediatrics, Ege University, Izmir, Turkey.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

24408148

Citation

Atik, Tahir, et al. "A New Mutation in the TBX5 Gene in Holt-Oram Syndrome: Two Cases in the Same Family and Prenatal Diagnosis." Journal of Tropical Pediatrics, vol. 60, no. 3, 2014, pp. 257-9.
Atik T, Dervisoglu H, Onay H, et al. A new mutation in the TBX5 gene in Holt-Oram syndrome: two cases in the same family and prenatal diagnosis. J Trop Pediatr. 2014;60(3):257-9.
Atik, T., Dervisoglu, H., Onay, H., Ozkinay, F., & Cogulu, O. (2014). A new mutation in the TBX5 gene in Holt-Oram syndrome: two cases in the same family and prenatal diagnosis. Journal of Tropical Pediatrics, 60(3), pp. 257-9. doi:10.1093/tropej/fmt109.
Atik T, et al. A New Mutation in the TBX5 Gene in Holt-Oram Syndrome: Two Cases in the Same Family and Prenatal Diagnosis. J Trop Pediatr. 2014;60(3):257-9. PubMed PMID: 24408148.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A new mutation in the TBX5 gene in Holt-Oram syndrome: two cases in the same family and prenatal diagnosis. AU - Atik,Tahir, AU - Dervisoglu,Huseyin, AU - Onay,Huseyin, AU - Ozkinay,Ferda, AU - Cogulu,Ozgur, Y1 - 2014/01/09/ PY - 2014/1/11/entrez PY - 2014/1/11/pubmed PY - 2015/4/14/medline KW - Holt–Oram Syndrome KW - TBX5 KW - Thumb SP - 257 EP - 9 JF - Journal of tropical pediatrics JO - J. Trop. Pediatr. VL - 60 IS - 3 N2 - Holt-Oram Syndrome (HOS) is a rare autosomal dominant condition characterized by anomalies of the upper extremity and cardiac malformations. Mutations in the TBX5 gene are what cause HOS. The proband is an 8-year-old male who presented with upper-extremity abnormalities and a chest deformity. He was born to a nonconsanguineous marriage at full term. He has a history of ventricular septal defect. His mother presented with deformation in both hands and forearms, and was 9 weeks' pregnant. Mutation analysis for TBX5 gene revealed heterozygous p.L65Qfs*10 in both the patient and his mother. Molecular analysis of the fetus was normal for TBX5 gene in the 13th week of pregnancy. In conclusion, our case supports the fact that the HOS presents differently, case by case, even within the same family. The novel mutation reported here and phenotypic findings in the affected members may contribute to the phenotype-genotype correlation. SN - 1465-3664 UR - https://www.unboundmedicine.com/medline/citation/24408148/A_new_mutation_in_the_TBX5_gene_in_Holt_Oram_syndrome:_two_cases_in_the_same_family_and_prenatal_diagnosis_ L2 - https://academic.oup.com/tropej/article-lookup/doi/10.1093/tropej/fmt109 DB - PRIME DP - Unbound Medicine ER -