Academic Journal
Setleis syndrome: clinical, molecular and structural studies of the first TWIST2 missense mutation
| العنوان: | Setleis syndrome: clinical, molecular and structural studies of the first TWIST2 missense mutation |
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| المؤلفون: | Uyguner, Zehra Oya, ROSTI, R. O., NAZARENKO, I., Bekerecioglu, M., CADILLA, C. L., LEE, B. H., AGGARWAL, A. K., DESNICK, R. J., Pehlivan, S., Ozgur, H. |
| المساهمون: | University of California System ,, 31180 |
| سنة النشر: | 2015 |
| مصطلحات موضوعية: | Moleküler Biyoloji ve Genetik, Temel Bilimler, Dahili Tıp Bilimleri, Yaşam Bilimleri (LIFE), Tıp, Sağlık Bilimleri, GENETİK VE HAYAT, Yaşam Bilimleri, Tıbbi Genetik |
| الوصف: | Setleis syndrome is characterized by bitemporal scar-like lesions and other characteristic facial features. It results from recessive mutations that truncate critical functional domains in the basic helix-loop-helix (bHLH) transcription factor, TWIST2, which regulates expression of genes for facial development. To date, only four nonsense or small deletion mutations have been reported. In the current report, the clinical findings in a consanguineous Turkish family were characterized. Three affected siblings had the characteristic features of Setleis syndrome. Homozygosity for the first TWIST2 missense mutation, c.326T>C (p.Leu109Pro), was identified in the patients. In silico analyses predicted that the secondary structure of the mutant protein was sustained, but the empirical force field energy increased to an unfavorable level with the proline substitution (p.Leu109Pro). On a crystallographically generated dimer, p.Leu109 lies near the dimer interface, and the proline substitution is predicted to hinder dimer formation. Therefore, p.Leu109Pro-TWIST2 alters the three dimensional structure and is unable to dimerize, thereby hindering the binding of TWIST2 to its target genes involved in facial development. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| تدمد: | 0009-9163 |
| Relation: | CLINICAL GENETICS; ROSTI R. O. , Uyguner Z. O. , NAZARENKO I., Bekerecioglu M., CADILLA C. L. , Ozgur H., LEE B. H. , AGGARWAL A. K. , Pehlivan S., DESNICK R. J. , "Setleis syndrome: clinical, molecular and structural studies of the first TWIST2 missense mutation", CLINICAL GENETICS, cilt.88, ss.489-493, 2015; av_a36ed8ec-e0ee-40dc-88b3-fc58c3207537; vv_1032021; http://hdl.handle.net/20.500.12627/109401; https://doi.org/10.1111/cge.12539; 88; 489; 493 |
| DOI: | 10.1111/cge.12539 |
| الاتاحة: | https://hdl.handle.net/20.500.12627/109401 https://doi.org/10.1111/cge.12539 |
| رقم الانضمام: | edsbas.51B67D42 |
| قاعدة البيانات: | BASE |
| تدمد: | 00099163 |
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| DOI: | 10.1111/cge.12539 |