SATB2 haploinsufficiency in patients with cleft palate

• Autorzy: Karin Writzl , Luca Lovrečić , Ján Vojtaššák , Borut Peterlin
• Języki publikacji: EN

Abstrakty

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.

Słowa kluczowe

EN

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

• Czasopismo: Open Medicine
• Rocznik: 2010
• Tom: 5
• Numer: 3
• Strony: 318-321

Daty

wydano

2010-06-01

online

2010-04-09

Twórcy

autor

Karin Writzl

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

autor

Luca Lovrečić

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

autor

Ján Vojtaššák

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

autor

Borut Peterlin

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

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Identyfikatory

DOI

10.2478/s11536-009-0141-3