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Genetic analysis of PITX2 and FOXC1 in Rieger Syndrome patients from Brazil.
J Glaucoma. 2002 Feb; 11(1):51-6.JG

Abstract

PURPOSE

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.

METHODS

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.

RESULTS

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.

CONCLUSIONS

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.

Authors+Show Affiliations

Department of Ophthalmology and Otorrinolaryngology, Glaucoma Service University of São Paulo, São Paulo, Brazil.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

11821690

Citation

Borges, Adriana Silva, et al. "Genetic Analysis of PITX2 and FOXC1 in Rieger Syndrome Patients From Brazil." Journal of Glaucoma, vol. 11, no. 1, 2002, pp. 51-6.
Borges AS, Susanna R, Carani JC, et al. Genetic analysis of PITX2 and FOXC1 in Rieger Syndrome patients from Brazil. J Glaucoma. 2002;11(1):51-6.
Borges, A. S., Susanna, R., Carani, J. C., Betinjane, A. J., Alward, W. L., Stone, E. M., Sheffield, V. C., & Nishimura, D. Y. (2002). Genetic analysis of PITX2 and FOXC1 in Rieger Syndrome patients from Brazil. Journal of Glaucoma, 11(1), 51-6.
Borges AS, et al. Genetic Analysis of PITX2 and FOXC1 in Rieger Syndrome Patients From Brazil. J Glaucoma. 2002;11(1):51-6. PubMed PMID: 11821690.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Genetic analysis of PITX2 and FOXC1 in Rieger Syndrome patients from Brazil. AU - Borges,Adriana Silva, AU - Susanna,Remo,Jr AU - Carani,José Carlos Eudes, AU - Betinjane,Alberto J, AU - Alward,Wallace L, AU - Stone,Edwin M, AU - Sheffield,Val C, AU - Nishimura,Darryl Y, PY - 2002/2/1/pubmed PY - 2002/3/12/medline PY - 2002/2/1/entrez SP - 51 EP - 6 JF - Journal of glaucoma JO - J Glaucoma VL - 11 IS - 1 N2 - PURPOSE: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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. SN - 1057-0829 UR - https://www.unboundmedicine.com/medline/citation/11821690/Genetic_analysis_of_PITX2_and_FOXC1_in_Rieger_Syndrome_patients_from_Brazil_ L2 - https://doi.org/10.1097/00061198-200202000-00010 DB - PRIME DP - Unbound Medicine ER -