Genetic analysis of PITX2 and FOXC1 in Rieger Syndrome patients from Brazil

Adriana Silva Borges; Remo Susanna Jr; José Carlos Eudes Carani; Alberto J Betinjane; Wallace L Alward; Edwin M Stone; Val C Sheffield; Darryl Y Nishimura

doi:10.1097/00061198-200202000-00010

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Genetic analysis of PITX2 and FOXC1 in Rieger Syndrome patients from Brazil

Journal article

Open access

Peer reviewed

Genetic analysis of PITX2 and FOXC1 in Rieger Syndrome patients from Brazil

Adriana Silva Borges, Remo Susanna Jr, José Carlos Eudes Carani, Alberto J Betinjane, Wallace L Alward, Edwin M Stone, Val C Sheffield and Darryl Y Nishimura

Journal of glaucoma, Vol.11(1), pp.51-56

02/2002

DOI: 10.1097/00061198-200202000-00010

PMID: 11821690

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Abstract

Axenfeld-Rieger syndrome is a genetically heterogeneous, autosomal dominant disorder that is characterized by anterior segment defects, glaucoma, and extraocular anomalies. This study examined the two genes known to cause Rieger syndrome, PITX2 and FOXC1, for mutations in five Brazilian families with Axenfeld-Rieger syndrome. Five families with a total of 23 persons affected by Axenfeld-Rieger syndrome were recruited for this study. A sequencing-based mutation screen was undertaken for the PITX2 and FOXC1 genes. Linkage analysis was used to study one large family for which no mutations were detected in the PITX2 or FOXC1 genes. Two of the five families harbored mutations in the PITX2 gene, but none of the families had a detectable FOXC1 mutation. Haplotypic analysis of three Rieger syndrome regions in a large family with Axenfeld-Rieger syndrome excluded linkage to the 4q25 (PITX2), 6p25 (FOXC1), and 13q14 (RIEG2) regions. It appears that the PITX2 gene is responsible for a significant portion of Axenfeld-Rieger syndrome in the Brazilian population. Furthermore, there is also evidence for the presence of genetic heterogeneity of the disorder within the Brazilian population. Finally, a large family with Axenfeld-Rieger syndrome has been identified that does not appear to harbor any of the three known loci. Axenfeld-Rieger syndrome gene segregation in this family likely represents a novel locus.

Mutation

Glaucoma - ethnology

Humans

Genotype

Male

Transcription Factors - genetics

Chromosomes, Human, Pair 4 - genetics

DNA Primers - chemistry

Eye Abnormalities - genetics

Chromosomes, Human, Pair 6 - genetics

Homeodomain Proteins - genetics

Syndrome

Nuclear Proteins

DNA Mutational Analysis

Pedigree

Iris - abnormalities

Female

Cornea - abnormalities

Eye Abnormalities - ethnology

Glaucoma - genetics

Forkhead Transcription Factors

Brazil - epidemiology

DNA-Binding Proteins

Genetic Linkage

Details

Title: Subtitle: Genetic analysis of PITX2 and FOXC1 in Rieger Syndrome patients from Brazil
Creators: Adriana Silva Borges - Department of Ophthalmology and Otorrinolaryngology, Glaucoma Service University of São Paulo, São Paulo, Brazil
Remo Susanna Jr
José Carlos Eudes Carani
Alberto J Betinjane
Wallace L Alward
Edwin M Stone
Val C Sheffield
Darryl Y Nishimura
Resource Type: Journal article
Publication Details: Journal of glaucoma, Vol.11(1), pp.51-56
DOI: 10.1097/00061198-200202000-00010
PMID: 11821690
NLM abbreviation: J Glaucoma
ISSN: 1057-0829
eISSN: 1536-481X
Publisher: United States
Language: English
Date published: 02/2002
Academic Unit: Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
Record Identifier: 9983980026102771

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