Cytogenetically invisible microdeletions involving PITX2 in Rieger syndrome

E Engenheiro, J Saraiva, I Carreira, L Ramos, H H Ropers, E Silva, N Tommerup, Z Tümer


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.

TidsskriftClinical Genetics
Udgave nummer5
Sider (fra-til)464-70
Antal sider7
StatusUdgivet - nov. 2007
Udgivet eksterntJa


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