A Girl with Greig Cephalopolysyndactyly Contiguous Gene Deletion Syndrome: The Importance and Usefulness of DNA Microarray Analysis
- *Corresponding Author:
- Yo Niida
Center for Medical Genetics
Kanazawa Medical University Hospital
1-1 Daigaku, Uchinada
Ishikawa, 9200293, Japan
Tel: 81 0762862211
Fax: 81 0762865002
E-mail: [email protected]
Received Date: October 05, 2015; Accepted Date: October 24, 2015; Published Date: October 27, 2015
Citation: Niida Yo, Ozaki M, Takase E, Yokoyama T, Yamada S (2015) A Girl with Greig Cephalopolysyndactyly Contiguous Gene Deletion Syndrome: The Importance and Usefulness of DNA Microarray Analysis. Genetics S7:004. doi:10.4172/2161-1041.S7-004
Copyright: © 2015 Niida Yo, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Greig cephalopolysyndactyly syndrome (GCPS) is an autosomal dominant disease, characterized by polysyndactyly, macrocephaly and facial dysmorphisms. GCPS can appear both by point mutations of GLI3 or contiguous gene deletion of 7p13 (GCPS-CGS). We report a 2-year-old girl with GCPS-CGS. DNA microarray analysis revealed 6.2 Mb deletion of 7p12.3p14.1 including GLI3, CCM2 and GCK. She manifests multiple cerebral cavernous malformations by deletion of CCM2. Also it is revealed that she has a high risk of developing maturity onset diabetes of the young type 2 by deletion of GCK. DNA microarray provide a definitive diagnosis and clarify the genes involved in the deletion for the proper management of the complications.