RT Journal Article SR Electronic T1 A novel missense mutation in the TBX5 gene in a Saudi infant with Holt-Oram syndrome JF Saudi Medical Journal JO Saudi Med J FD Prince Sultan Military Medical City SP 980 OP 982 DO 10.15537/smj.2015.8.11891 VO 36 IS 8 A1 Mohammad M. Al-Qattan A1 Hussam Abou Al-Shaar YR 2015 UL http://smj.org.sa/content/36/8/980.abstract 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.