A novel missense mutation in the TBX5 gene in a Saudi infant with Holt-Oram syndrome

Authors

• Mohammad M. Al-Qattan, From the Division of Plastic Surgery (Al-Qattan), King Saud University, and the College of Medicine (Abou Al-Shaar), Alfaisal University, Riyadh, Kingdom of Saudi Arabia
• Hussam Abou Al-Shaar, From the Division of Plastic Surgery (Al-Qattan), King Saud University, and the College of Medicine (Abou Al-Shaar), Alfaisal University, Riyadh, Kingdom of Saudi Arabia

Abstract

We report on a Saudi infant with Holt-Oram syndrome caused by a de novo missense mutation of the TBX5 gene. The mutation (Thr72Lys) is novel and has not been previously reported. The cardiac and limb defects in our patient were both severe, and the infant also had micrognathia and cleft palate. Previously reported cases of the Holt-Oram syndrome caused by missense mutations were reviewed and their phenotypes were compared with the phenotype of our patient.

Article Type

Case Report

First Page

980

Last Page

982

Recommended Citation

Al-Qattan, Mohammad M. and Al-Shaar, Hussam Abou (2015) "A novel missense mutation in the TBX5 gene in a Saudi infant with Holt-Oram syndrome," Saudi Medical Journal: Vol. 36: Iss. 8, Article 13.
DOI: https://doi.org/10.15537/smj.2015.8.11891