A novel mutated sequence in the T-box transcription factor-5 (TBX-5) gene (c.241A>T) in Holt–Oram syndrome
| العنوان: | A novel mutated sequence in the T-box transcription factor-5 (TBX-5) gene (c.241A>T) in Holt–Oram syndrome |
|---|---|
| المؤلفون: | İbrahim Kale, Ali Özgür Ersoy, Ebru Ersoy, Nuri Danisman, Sibel Ozler, Vehap Topcu |
| المصدر: | Journal of the Turkish-German Gynecological Association, Vol 17, Iss 1, Pp 55-57 (2016) |
| بيانات النشر: | Galenos Yayinevi, 2016. |
| سنة النشر: | 2016 |
| مصطلحات موضوعية: | medicine.medical_specialty, lcsh:Medicine, Case Report, lcsh:Gynecology and obstetrics, Exon, Internal medicine, medicine, holt–oram syndrome, Outpatient clinic, Gene, preimplantation genetic diagnosis, lcsh:RG1-991, Fetus, Holt–Oram syndrome, business.industry, lcsh:R, Intron, Obstetrics and Gynecology, Anatomy, medicine.disease, Endocrinology, Mutation testing, Gestation, tbx5 gene, novel mutation, business |
| الوصف: | 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. |
| اللغة: | English |
| تدمد: | 1309-0380 1309-0399 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a9b3f046ddc9b968f7843c85389bac8Test https://doaj.org/article/ae59103773574676a98d95e089a59fe4Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....5a9b3f046ddc9b968f7843c85389bac8 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 13090380 13090399 |
|---|