A Familial Case with Holt-Oram Syndrome with a Novel TBX5 Mutation

대한의학유전학회
대한의학유전학회지
제9권 제2호
2012.12

98 - 100 (3 pages)

Holt-Oram syndrome (HOS) is the most common heart-hand syndrome, which is inherited in an autosomal dominant manner, but most cases are sporadic. This condition is characterized by upper-extremity malformations involving radial-ray, thenar, and carpal bones, and congenital heart malformations including atrial septal defect and ventricular septal defect. It is caused by mutations in the TBX5 gene. In this report, a Korean case with HOS is described, which is inherited from her father. A novel nonsense mutation, p.Glu294*, was identified. This is the first Korean case with HOS confirmed by genetic testing.

Abstract

Introduction

Case Report

Discussion

Acknowledgements

References

A Familial Case with Holt-Oram Syndrome with a Novel TBX5 Mutation

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A Familial Case with Holt-Oram Syndrome with a Novel TBX5 Mutation

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