title: Cytogenetically invisible microdeletions involving PITX2 in Rieger syndrome.
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.affiliation: Department of Cellular and Molecular Medicine, Wilhelm Johannsen Center for Functional Genome Research, University of Copenhagen, Copenhagen, Denmark. engenheiro@imbg.ku.dk
authors.forename: E
authors.initials: E
authors.lastname: Engenheiro
authors.forename: J
authors.initials: J
authors.lastname: Saraiva
authors.forename: I
authors.initials: I
authors.lastname: Carreira
authors.forename: L
authors.initials: L
authors.lastname: Ramos
authors.forename: H H
authors.initials: HH
authors.lastname: Ropers
authors.forename: E
authors.initials: E
authors.lastname: Silva
authors.forename: N
authors.initials: N
authors.lastname: Tommerup
authors.forename: Z
authors.initials: Z
authors.lastname: Tümer
mesh_terms: D002675:Child, Preschool; D002886:Chromosomes, Human, Pair 17; D002894:Chromosomes, Human, Pair 4; D020732:Cytogenetic Analysis; D005124:Eye Abnormalities / Q000235:genetics*; D017353:Gene Deletion; D043384:Glutamyl Aminopeptidase / Q000235:genetics; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D013577:Syndrome; D014071:Tooth Abnormalities / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*; D014178:Translocation, Genetic; D000097577:Homeobox Protein PITX2
chemical_list: D043384:Glutamyl Aminopeptidase; D018398:Homeodomain Proteins; D014157:Transcription Factors; D000097577:Homeobox Protein PITX2; C054942:ENPEP protein, human