Open AccessA novel mutated sequence in the T-box transcription factor-5 (TBX-5) gene (c.241A>T) in Holt–Oram syndrome
Author(s) -
Ali Özgür Ersoy,
Vehap Topçu,
İ̇brahim Kale,
Ebru Ersoy,
Sibel Özler,
Nuri Danışman
Publication year - 2016
Publication title -
journal of the turkish-german gynecological association
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.346
H-Index - 16
eISSN - 1309-0399
pISSN - 1309-0380
DOI - 10.5152/jtgga.2015.15233
Subject(s) - exon , fetus , outpatient clinic , intron , medicine , gene , gestation , biology , pregnancy , genetics
We report a case of a 31-year-old pregnant woman who was admitted to our perinatology outpatient clinic because of a fetal ventricular septal defect and limb reduction in the upper extremities of fetus revealed by ultrasonographic investigation diagnosed in the 16(th) week of gestation. First child of the family was diagnosed with Holt-Oram syndrome who had atrial septal defect and upper limb anomalies, whereas the father was documented to have arrhythmia and shortening of upper limbs. The pregnancy was terminated in the 16(th) week of gestation with the consent of the family. We performed mutation analysis in T-box transcription factor-5 (TBX5) gene coding exons, including exon/intron boundaries from peripheral blood or skin fibroblasts. The sequence analysis revealed c.241 adenine (A)>thymine (T) [p. arginine (Arg) 81 Tryptophan (Trp)] alteration in exon-3 of the TBX5 gene in affected family members and fetus. This is a novel mutation causing Holt-Oram syndrome.