RT Journal Article
SR Electronic
T1 A novel missense mutation in the <em>TBX5</em> 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 Al-Qattan, Mohammad M.
A1 Al-Shaar, Hussam Abou
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.