Functional interactions between FOXC1 and PITX2 underlie the sensitivity to FOXC1 gene dose in Axenfeld–Rieger syndrome and anterior segment dysgenesis
نویسندگان
چکیده
منابع مشابه
Foxf2: A Novel Locus for Anterior Segment Dysgenesis Adjacent to the Foxc1 Gene
Anterior segment dysgenesis (ASD) is characterised by an abnormal migration of neural crest cells or an aberrant differentiation of the mesenchymal cells during the formation of the eye's anterior segment. These abnormalities result in multiple tissue defects affecting the iris, cornea and drainage structures of the iridocorneal angle including the ciliary body, trabecular meshwork and Schlemm'...
متن کاملCharacterization of a novel FOXC1 mutation, P297S, identified in two individuals with anterior segment dysgenesis.
To the Editor: FOXC1 is a member of the forkhead transcription factor gene family as defined by the presence of the DNA binding forkhead domain. Mutations in FOXC1 lead to Axenfeld–Rieger syndrome, a disease characterized by ocular phenotypes and increased glaucoma risk (1). Mutations resulting in reduced FOXC1 function and duplications of FOXC1 both cause disease, indicating that precise regul...
متن کاملExpanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations.
PURPOSE Anterior segment dysgenesis (ASD) comprises a heterogeneous group of developmental abnormalities that affect several structures of the anterior segment of the eye. The main purpose of this study was to assess the proportion of FOXC1 and PITX2 mutations and copy number changes in 80 probands with ASD. METHODS The patients were examined for FOXC1 and PITX2 copy number changes and mutati...
متن کاملMutation of FOXC1 and PITX2 induces cerebral small-vessel disease.
Patients with cerebral small-vessel disease (CSVD) exhibit perturbed end-artery function and have an increased risk for stroke and age-related cognitive decline. Here, we used targeted genome-wide association (GWA) analysis and defined a CSVD locus adjacent to the forkhead transcription factor FOXC1. Moreover, we determined that the linked SNPs influence FOXC1 transcript levels and demonstrated...
متن کاملA Novel Homozygous Mutation in FOXC1 Causes Axenfeld Rieger Syndrome with Congenital Glaucoma
BACKGROUND Anterior segment dysgenesis (ASD) disorders are a group of clinically and genetically heterogeneous phenotypes in which frequently cornea, iris, and lens are affected. This study aimed to identify novel mutations in PAX6, PITX2 and FOXC1 in families with anterior segment dysgenesis disorders. METHODS We studied 14 Pakistani and one Mexican family with Axenfeld Rieger syndrome (ARS;...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2006
ISSN: 1460-2083,0964-6906
DOI: 10.1093/hmg/ddl008