期刊
EUROPEAN JOURNAL OF MEDICAL GENETICS
卷 52, 期 6, 页码 446-449出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.ejmg.2009.08.005
关键词
Goldenhar syndrome; Oculoauriculovertebralspectrum; 12p13.33 deletion; WNT5B; CACNA1C
资金
- French Ministry of Research of France
- French Ministry of Health
- GIS Maladies Rares and the Association Franqaise contre les Myopathies
- Conseil Regional d'Aquitaine [ndegrees20030304002FA, ndegrees20040305003FA]
- FEDER [ndegrees2003227]
We describe a patient presenting with developmental delay, patent foramen ovale, moderate short QT interval, and facial dysmorphism including left microtia, preauricular tag and pit, wide left corner of the mouth, and left hemifacial microsomia, fitting with the oculoauriculovertebral spectrum. We identified a de novo 2.3 Mb deletion in the 12p13.33 region that contains eighteen genes. Amongst those, the WNT5B gene stands out as a possible candidate. However, we did not find any mutation of this gene neither in our patient nor in a series of 53 OAVS patients. The CACNA1C gene is interrupted by the centromeric breakpoint of the deletion and its inactivation probably accounts for the short QT interval of the patient. We speculate that the phenotype of our patient may be explained by the combined effect of the loss of several of the genes contained in the deleted chromosomal segment and of the inactivation of GACNA1C. (C) 2009 Elsevier Masson SAS. All rights reserved.
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