aniridia/proline

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Three novel aniridia mutations in the human PAX6 gene.

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Aniridia (iris hypoplasia) is an autosomal dominant congenital disorder of the eye. Mutations in the human aniridia (PAX6) gene have now been identified in many patients from various ethnic groups. In the study reported here we describe PAX6 mutations in one sporadic and five familial cases with

PAX6 gene mutations and genotype-phenotype correlations in sporadic cases of aniridia from India.

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In order to understand the underlying molecular genetic defect causing aniridia in India, eight probands from sporadic cases were screened for all 14 exons of the PAX6 gene using polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP). Direct sequencing of the SSCP variants

Mutation in the PAX6 gene in twenty patients with aniridia.

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This is a report on the nature of the mutations in the PAX6 gene in twenty patients with aniridia. Five of the twenty patients had sporadic aniridia with deletions in chromosome 11p13. Three of the five had WAGR syndrome (Wilms tumor, aniridia, genitourinary anomalies, mental retardation), and the

A LINE element is present at the site of a 300-kb deletion starting in intron 10 of the PAX6 gene in a case of familial aniridia.

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We have identified a 300-kb germline deletion in 11p13 in a family with aniridia but no Wilms' tumor. Cloning and sequencing of the breakpoint revealed that the deletion starts in intron 10 of the PAX6 gene and removes the C-terminal part of the proline-serine-threonine rich domain, leaving both

Genotype/phenotype correlations in aniridia.

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OBJECTIVE To detect and characterize mutations in cases of familial and sporadic aniridia in Maritime Canada, and to look for indications of genotype/phenotype correlation within the cohort. METHODS Twelve consecutive and unrelated patients (probands) who had total or nearly complete absence of

Ten novel mutations found in Aniridia.

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Aniridia (AN) is a sight-threatening congenital ocular disorder characterized by iris hypoplasia, corneal pannus, foveal and optic nerve hypoplasia, cataract formation, and glaucoma. In two-thirds of the patients, AN is inherited in an autosomal dominant fashion with almost complete penetrance but

A novel PAX6 gene mutation (P118R) in a family with congenital nystagmus associated with a variant form of aniridia.

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BACKGROUND A variety of PAX6 gene mutations were identified in patients with aniridia and/or allied ocular dysgenesis such as keratopathy, Peters' anomaly, foveal hypoplasia, and nystagmus. To scrutinize the etiology of a four-generation Japanese family with autosomal dominant nystagmus associated

Mutation of the PAX6 gene in patients with autosomal dominant keratitis.

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Autosomal dominant keratitis (ADK) is an eye disorder chiefly characterized by corneal opacification and vascularization and by foveal hypoplasia. Aniridia (shown recently to result from mutations in the PAX6 gene) has overlapping clinical findings and a similar pattern of inheritance with ADK. On

Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function.

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PAX6 is essential for ocular morphogenesis. Mutations in the PAX6 gene produce various phenotypes, including aniridia, Peters' anomaly, foveal hypoplasia, autosomal dominant keratitis and congenital cataracts. PAX6 functions as a transcription factor and has two DNA binding domains (a paired domain

Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities.

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OBJECTIVE The PAX6 gene was first described as a candidate for human aniridia. However, PAX6 expression is not restricted to the eye and it appears to be crucial for brain development. We studied PAX6 mutations in a large spectrum of patients who presented with aniridia phenotypes, Peters' anomaly,

Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation.

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Autosomal-dominant idiopathic infantile nystagmus has been linked to 6p12 (OMIM 164100), 7p11.2 (OMIM 608345) and 13q31-q33 (OMIM 193003). PAX6 (11p13, OMIM 607108) mutations can also cause autosomal-dominant nystagmus, typically in association with aniridia or iris hypoplasia. We studied a large

Truncation mutations in the transactivation region of PAX6 result in dominant-negative mutants.

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PAX6 is a transcription factor with two DNA-binding domains (paired box and homeobox) and a proline-serine-threonine (PST)-rich transactivation domain. PAX6 regulates eye development in animals ranging from jellyfish to Drosophila to humans. Heterozygous mutations in the human PAX6 gene result in

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