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Identification of the first intragenic deletion of the PITX2 gene causing an Axenfeld-Rieger Syndrome: case report.
BMC Med Genet. 2006 Nov 29; 7:82.BM

Abstract

BACKGROUND

Axenfeld-Rieger syndrome (ARS) is characterized by bilateral congenital abnormalities of the anterior segment of the eye associated with abnormalities of the teeth, midface, and umbilicus. Most cases of ARS are caused by mutations in the genes encoding PITX2 or FOXC1. Here we describe a family affected by a severe form of ARS.

CASE PRESENTATION

Two members of this family (father and daughter) presented with typical ARS and developed severe glaucoma. The ocular phenotype was much more severe in the daughter than in the father. Magnetic resonance imaging (MRI) detected an aggressive form of meningioma in the father. There was no mutation in the PITX2 gene, determined by exon screening. We identified an intragenic deletion by quantitative genomic PCR analysis and characterized this deletion in detail.

CONCLUSION

Our findings implicate the first intragenic deletion of the PITX2 gene in the pathogenesis of a severe form of ARS in an affected family. This study stresses the importance of a systematic search for intragenic deletions in families affected by ARS and in sporadic cases for which no mutations in the exons or introns of PITX2 have been found. The molecular genetics of some ARS pedigrees should be re-examined with enzymes that can amplify medium and large genomic fragments.

Authors+Show Affiliations

Centre de Recherche Thérapeutique en Ophtalmologie, EA no 2502, Faculté de Médecine René Descartes, site Necker, 156 rue de Vaugirard 75730 Paris cedex 15, Université Paris V, Paris, France. delaho@necker.frNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

17134502

Citation

de la Houssaye, Guillaume, et al. "Identification of the First Intragenic Deletion of the PITX2 Gene Causing an Axenfeld-Rieger Syndrome: Case Report." BMC Medical Genetics, vol. 7, 2006, p. 82.
de la Houssaye G, Bieche I, Roche O, et al. Identification of the first intragenic deletion of the PITX2 gene causing an Axenfeld-Rieger Syndrome: case report. BMC Med Genet. 2006;7:82.
de la Houssaye, G., Bieche, I., Roche, O., Vieira, V., Laurendeau, I., Arbogast, L., Zeghidi, H., Rapp, P., Halimi, P., Vidaud, M., Dufier, J. L., Menasche, M., & Abitbol, M. (2006). Identification of the first intragenic deletion of the PITX2 gene causing an Axenfeld-Rieger Syndrome: case report. BMC Medical Genetics, 7, 82.
de la Houssaye G, et al. Identification of the First Intragenic Deletion of the PITX2 Gene Causing an Axenfeld-Rieger Syndrome: Case Report. BMC Med Genet. 2006 Nov 29;7:82. PubMed PMID: 17134502.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Identification of the first intragenic deletion of the PITX2 gene causing an Axenfeld-Rieger Syndrome: case report. AU - de la Houssaye,Guillaume, AU - Bieche,Ivan, AU - Roche,Olivier, AU - Vieira,Véronique, AU - Laurendeau,Ingrid, AU - Arbogast,Laurence, AU - Zeghidi,Hatem, AU - Rapp,Philippe, AU - Halimi,Philippe, AU - Vidaud,Michel, AU - Dufier,Jean-Louis, AU - Menasche,Maurice, AU - Abitbol,Marc, Y1 - 2006/11/29/ PY - 2006/08/10/received PY - 2006/11/29/accepted PY - 2006/12/1/pubmed PY - 2006/12/12/medline PY - 2006/12/1/entrez SP - 82 EP - 82 JF - BMC medical genetics JO - BMC Med Genet VL - 7 N2 - BACKGROUND: Axenfeld-Rieger syndrome (ARS) is characterized by bilateral congenital abnormalities of the anterior segment of the eye associated with abnormalities of the teeth, midface, and umbilicus. Most cases of ARS are caused by mutations in the genes encoding PITX2 or FOXC1. Here we describe a family affected by a severe form of ARS. CASE PRESENTATION: Two members of this family (father and daughter) presented with typical ARS and developed severe glaucoma. The ocular phenotype was much more severe in the daughter than in the father. Magnetic resonance imaging (MRI) detected an aggressive form of meningioma in the father. There was no mutation in the PITX2 gene, determined by exon screening. We identified an intragenic deletion by quantitative genomic PCR analysis and characterized this deletion in detail. CONCLUSION: Our findings implicate the first intragenic deletion of the PITX2 gene in the pathogenesis of a severe form of ARS in an affected family. This study stresses the importance of a systematic search for intragenic deletions in families affected by ARS and in sporadic cases for which no mutations in the exons or introns of PITX2 have been found. The molecular genetics of some ARS pedigrees should be re-examined with enzymes that can amplify medium and large genomic fragments. SN - 1471-2350 UR - https://www.unboundmedicine.com/medline/citation/17134502/Identification_of_the_first_intragenic_deletion_of_the_PITX2_gene_causing_an_Axenfeld_Rieger_Syndrome:_case_report_ L2 - https://bmcmedgenet.biomedcentral.com/articles/10.1186/1471-2350-7-82 DB - PRIME DP - Unbound Medicine ER -