SATB2 haploinsufficiency in patients with cleft palate

• Authors: Karin Writzl , Luca Lovrečić , Ján Vojtaššák , Borut Peterlin
• Languages of publication: EN

Abstracts

EN

De novo translocation interrupting the transcription unit of SATB2 gene has been associated with cleft palate only (CPO). We tested for the presence of the copy number of SATB2 gene in a sample of 92 patients with CPO using a quantitative real-time PCR approach. In one patient (1%, 95% CI = 0.2%–6%), a 19 Mb de novo deletion encompassing the SATB2 gene was detected. These results suggest that SATB2 gene deletions do not play an important role in the etiology of cleft palate.

Keywords

EN

SATB2; Haploinsufficiency; Deletion; Cleft palate; Real time PCR

• Publisher: De Gruyter Open
• Journal: Open Medicine
• Year: 2010
• Volume: 5
• Issue: 3
• Pages: 318-321

Dates

published

1 - 6 - 2010

online

9 - 4 - 2010

Contributors

author

Karin Writzl

• Division of Medical Genetics, Department of Obstetrics and Gynecology, University Medical Centre Ljubljana, 1000, Ljubljana, Slovenia

author

Luca Lovrečić

• Division of Medical Genetics, Department of Obstetrics and Gynecology, University Medical Centre Ljubljana, 1000, Ljubljana, Slovenia

author

Ján Vojtaššák

• Institute of Medical Biology and Genetics, School of Medicine, Comenius University, 81108, Bratislava, Slovakia

author

Borut Peterlin

• Division of Medical Genetics, Department of Obstetrics and Gynecology, University Medical Centre Ljubljana, 1000, Ljubljana, Slovenia

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Identifiers

DOI

10.2478/s11536-009-0141-3