Deletions of 16p11.2 and 19p13.2 in a family with intellectual disability and generalized epilepsy

作者：Bassuk Alexander G; Geraghty Eileen; Wu Shu; Mullen Saul A; Berkovic Samuel F; Scheffer Ingrid E; Mefford Heather C^*

来源：American Journal of Medical Genetics, Part A, 2013, 161A(7): 1722-1725.

DOI：10.1002/ajmg.a.35946

• epilepsy
• intellectual disability
• CNV
• deletion

Rare copy number variants (CNVs) have been established as an important cause of various neurodevelopmental disorders, including intellectual disability (ID) and epilepsy. In some cases, a second CNV may contribute to a more severe clinical presentation. Here we present two siblings and their mother who have mild ID, short stature, obesity and seizures. Array CGH studies show that each affected individual has two large, rare CNVs. The first is a deletion of chromosome 16p11.2, which has been previously associated with ID and autism. The second is a 0.9Mb deletion of 19p13.2, which results in the deletion of a cluster of zinc finger genes. We suggest that, while the 16p11.2 deletion is likely the primary cause of the obesity and ID in this family, the 19p13.2 deletion may act as a modifier of the epilepsy phenotype, which is not a core feature of the 16p11.2 deletion syndrome. We investigate the potential role of ZNF44, a gene within the deleted region, in a cohort of patients with generalized epilepsy.

• 出版日期2013-7