Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2009 Nov-Dec;52(6):446-9.
doi: 10.1016/j.ejmg.2009.08.005. Epub 2009 Sep 3.

2.3 Mb terminal deletion in 12p13.33 associated with oculoauriculovertebral spectrum and evaluation of WNT5B as a candidate gene

Caroline Rooryck  1 , Marianne Stef, Ingrid Burgelin, Delphine Simon, Noui Souakri, Jean-Benoît Thambo, Jean-François Chateil, Didier Lacombe, Benoît Arveiler
Affiliations
Case Reports

2.3 Mb terminal deletion in 12p13.33 associated with oculoauriculovertebral spectrum and evaluation of WNT5B as a candidate gene

Caroline Rooryck et al. Eur J Med Genet. 2009 Nov-Dec.

Abstract

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 CACNA1C.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

Publication types

LinkOut - more resources