TBX1 loss‑of‑function mutation contributes to congenital conotruncal defects
نویسندگان
چکیده
منابع مشابه
MEF2C loss-of-function mutation contributes to congenital heart defects
Congenital heart disease (CHD) is the most common type of developmental abnormality in humans, and is a leading cause for substantially increased morbidity and mortality in affected individuals. Increasing studies demonstrates a pivotal role of genetic defects in the pathogenesis of CHD, and presently mutations in more than 60 genes have been associated with CHD. Nevertheless, CHD is of pronoun...
متن کاملGenetic background of congenital conotruncal heart defects--a study of 45 families.
INTRODUCTION The latest achievements in molecular diagnosis create new possibilities for evaluation of congenital abnormalities. AIM To present our preliminary experience with genetic diagnosis of congenital combined conotruncal heart defects. METHODS The analysis comprised 35 families with more than one member suffering from conotruncal heart defects (Group I) and 10 families (Group II) ha...
متن کاملMicrodeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects.
Congenital conotruncal cardiac defects occur with increased frequency in patients with DiGeorge syndrome (DGS). Previous studies have shown that the majority of patients with DGS or velocardiofacial syndrome (VCFS) have a microdeletion within chromosomal region 22q11. We hypothesised that patients with conotruncal defects who were not diagnosed with DGS or VCFS would also have 22q11 deletions. ...
متن کاملTbx1 mutation causes multiple cardiovascular defects and disrupts neural crest and cranial nerve migratory pathways.
TBX1 is the major candidate gene for DiGeorge syndrome (DGS). Mouse studies have shown that the Tbx1 gene is haploinsufficient, as expected for a DGS candidate gene, and that it is required for the development of pharyngeal arches and pouches, as predicted by the DGS clinical phenotype. However, a detailed analysis of the cardiovascular phenotype associated with Tbx1 mutations has not been repo...
متن کاملAtypical 22q11 microdeletions in Iranian patients with congenital conotruncal cardiac defects.
A highly characteristic feature of 22q11DS (22q11 Deletion Syndrome) is congenital heart disease (CHD), which occurs in approximately 75% of all patients.1 Characteristics of congenital cardio vascular defects associated with DG/VCF (DiGeorge/ Velocardiofacial syndrome) are termed tetralogy of Fallot including pulmonary atresia and ventricular septal defect (VSD) in the severest type, truncus a...
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ژورنال
عنوان ژورنال: Experimental and Therapeutic Medicine
سال: 2017
ISSN: 1792-0981,1792-1015
DOI: 10.3892/etm.2017.5362