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Cytogenetically invisible microdeletions involving PITX2 in Rieger syndrome.
Clin Genet. 2007 Nov; 72(5):464-70.CG

Abstract

Axenfeld-Rieger syndrome (ARS) is a genetically heterogeneous autosomal dominant disorder mainly characterized by developmental defects of the anterior segment and extraocular anomalies. ARS shows great clinical variability and encompasses several conditions with overlapping phenotypes, including Rieger syndrome (RS). RS is characterized by developmental defects of the eyes, teeth and umbilicus, and the main causative gene is PITX2 (paired-like homeodomain transcription factor 2, or RIEG1) at 4q25. PITX2 mutations show great variety, from point mutations to microscopic or submicroscopic deletions, and apparently balanced translocations in few cases. We identified cytogenetically undetectable submicroscopic deletions at 4q25 in two unrelated patients diagnosed with RS. One patient had a t(4;17)(q25;q22)dn translocation with a deletion at the 4q breakpoint, and the other patient had an interstitial deletion of 4q25. Both deletions included only the PITX2 and ENPEP (glutamyl aminopeptidase) genes.

Authors+Show Affiliations

Department of Cellular and Molecular Medicine, Wilhelm Johannsen Center for Functional Genome Research, University of Copenhagen, Copenhagen, Denmark. engenheiro@imbg.ku.dkNo 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

17850355

Citation

Engenheiro, E, et al. "Cytogenetically Invisible Microdeletions Involving PITX2 in Rieger Syndrome." Clinical Genetics, vol. 72, no. 5, 2007, pp. 464-70.
Engenheiro E, Saraiva J, Carreira I, et al. Cytogenetically invisible microdeletions involving PITX2 in Rieger syndrome. Clin Genet. 2007;72(5):464-70.
Engenheiro, E., Saraiva, J., Carreira, I., Ramos, L., Ropers, H. H., Silva, E., Tommerup, N., & Tümer, Z. (2007). Cytogenetically invisible microdeletions involving PITX2 in Rieger syndrome. Clinical Genetics, 72(5), 464-70.
Engenheiro E, et al. Cytogenetically Invisible Microdeletions Involving PITX2 in Rieger Syndrome. Clin Genet. 2007;72(5):464-70. PubMed PMID: 17850355.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Cytogenetically invisible microdeletions involving PITX2 in Rieger syndrome. AU - Engenheiro,E, AU - Saraiva,J, AU - Carreira,I, AU - Ramos,L, AU - Ropers,H H, AU - Silva,E, AU - Tommerup,N, AU - Tümer,Z, Y1 - 2007/09/10/ PY - 2007/9/14/pubmed PY - 2008/1/5/medline PY - 2007/9/14/entrez SP - 464 EP - 70 JF - Clinical genetics JO - Clin Genet VL - 72 IS - 5 N2 - Axenfeld-Rieger syndrome (ARS) is a genetically heterogeneous autosomal dominant disorder mainly characterized by developmental defects of the anterior segment and extraocular anomalies. ARS shows great clinical variability and encompasses several conditions with overlapping phenotypes, including Rieger syndrome (RS). RS is characterized by developmental defects of the eyes, teeth and umbilicus, and the main causative gene is PITX2 (paired-like homeodomain transcription factor 2, or RIEG1) at 4q25. PITX2 mutations show great variety, from point mutations to microscopic or submicroscopic deletions, and apparently balanced translocations in few cases. We identified cytogenetically undetectable submicroscopic deletions at 4q25 in two unrelated patients diagnosed with RS. One patient had a t(4;17)(q25;q22)dn translocation with a deletion at the 4q breakpoint, and the other patient had an interstitial deletion of 4q25. Both deletions included only the PITX2 and ENPEP (glutamyl aminopeptidase) genes. SN - 0009-9163 UR - https://www.unboundmedicine.com/medline/citation/17850355/Cytogenetically_invisible_microdeletions_involving_PITX2_in_Rieger_syndrome_ L2 - https://doi.org/10.1111/j.1399-0004.2007.00879.x DB - PRIME DP - Unbound Medicine ER -