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Further characterization of microdeletion syndrome involving 2p15‐p16.1

2010; Wiley; Volume: 152A; Issue: 10 Linguagem: Inglês

10.1002/ajmg.a.33612

1552-4833

Têmis Maria Félix, Aline Petrin, Maria Teresa Vieira Sanseverino, Jeffrey C. Murray,

Genomics and Rare Diseases

Abstract We report on a patient presenting with cognitive delay, prenatal and postnatal growth deficiency, microcephaly, ptosis of eyelids, high and broad nasal root, and camptodactyly. Analysis of a dense whole genome single‐nucleotide polymorphism (SNP) array showed a de novo 3.35 Mb deletion on 2p15‐p16.1. In order to study the parental origin of the deletion we analyzed selected SNPs in the deleted area in the proband and her parents showing Mendelian incompatibilities suggesting a de novo deletion on the chromosome of paternal origin. Based on the five cases described previously in the literature, we have narrowed the critical region responsible for the 2p15‐p16.1 microdeletion syndrome phenotype. The critical region does not include the VRK2 gene that had been speculated to have a role in cortical dysplasia. However, the association of the VRK2 gene with cortical dysplasia remains to be determined, as MRI imaging of the brain and gene content of the 2p15‐16 deletion becomes established in more patients. © 2010 Wiley‐Liss, Inc.