PT  - JOURNAL ARTICLE
AU  - Al-Qattan, Mohammad M.
AU  - Al-Shaar, Hussam Abou
TI  - A novel missense mutation in the <em>TBX5</em> gene in a Saudi infant with Holt-Oram syndrome
AID  - 10.15537/smj.2015.8.11891
DP  - 2015 Aug 01
TA  - Saudi Medical Journal
PG  - 980--982
VI  - 36
IP  - 8
4099  - http://smj.org.sa/content/36/8/980.short
4100  - http://smj.org.sa/content/36/8/980.full
SO  - Saudi Med J2015 Aug 01; 36
AB  - 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.