Digenic inheritance of mutations in FOXC1 and PITX2 : Correlating transcription factor function and axenfeld-rieger disease severity
نویسندگان
چکیده
منابع مشابه
Novel mutation in FOXC1 wing region causing Axenfeld-Rieger anomaly.
PURPOSE To determine the possible molecular genetic defect underlying Axenfeld-Rieger anomaly (ARA) and to identify the pathogenic mutation causing this anterior segment dysgenesis in an Indian pedigree. METHODS The FOXC1 gene was amplified from genomic DNA of members of an ARA-affected family and control subjects using four novel sets of primers. The amplicons were directly sequenced, and th...
متن کاملStructural assessment of PITX2, FOXC1, CYP1B1, and GJA1 genes in patients with Axenfeld-Rieger syndrome with developmental glaucoma.
PURPOSE Axenfeld-Rieger (AR) is an autosomal dominant disorder with phenotypic heterogeneity characterized by anterior segment dysgenesis, facial bone defects, and redundant periumbilical skin. The PITX2 gene, on chromosome 4q25, and the FOXC1 gene, on chromosome 6p25, have been implicated in the different phenotypes of the syndrome through mutational events. Recently, the CYP1B1 gene was found...
متن کاملNovel mutations in the FOXC1 gene in Japanese patients with Axenfeld-Rieger syndrome
PURPOSE Mutations in the forkhead transcription factor (FOXC1) gene have been shown to cause juvenile glaucoma associated with a variety of anterior-segment anomalies. The purpose of this study was to determine the ocular and genetic characteristics of two Japanese families with Axenfeld-Rieger syndrome (ARS). METHODS Genomic DNA was extracted from the leukocytes of six members of two familie...
متن کاملPITX2 Loss-of-Function Mutation Contributes to Congenital Endocardial Cushion Defect and Axenfeld-Rieger Syndrome
Congenital heart disease (CHD), the most common type of birth defect, is still the leading non-infectious cause of infant morbidity and mortality in humans. Aggregating evidence demonstrates that genetic defects are involved in the pathogenesis of CHD. However, CHD is genetically heterogeneous and the genetic components underpinning CHD in an overwhelming majority of patients remain unclear. In...
متن کاملIdentification of four new PITX2 gene mutations in patients with Axenfeld-Rieger syndrome.
PURPOSE Axenfeld Rieger syndrome (ARS) is an autosomal dominant inherited disorder affecting development of the ocular anterior chamber, abdomen, teeth and facial structures. The PITX2 gene is a major gene encoding a major transcription factor associated with ARS. METHODS ARS patients were collected from six unrelated families. Patients and their families were ophthalmologically phenotyped an...
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ژورنال
عنوان ژورنال: Human Mutation
سال: 2011
ISSN: 1059-7794
DOI: 10.1002/humu.21550