Genética hereditaria: investigación actual

Abstracto

A Girl with Greig Cephalopolysyndactyly Contiguous Gene Deletion Syndrome: The Importance and Usefulness of DNA Microarray Analysis

Niida Yo, Ozaki M, Takase E, Yokoyama T and Yamada S

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.