6p21.3 microdeletion involving the SYNGAP1 gene in a patient with intellectual disability, seizures, and severe speech impairment

作者：Writzl Karin^*; Knegt Alida C

来源：American Journal of Medical Genetics, Part A, 2013, 161A(7): 1682-1685.

DOI：10.1002/ajmg.a.35930

• 6p21
• 3 microdeletion
• SYNGAP1
• speech delay
• epilepsy
• myoclonic
• absence

The chromosome 6p21.3 microdeletion phenotype was recently identified through array comparative genomic hybridization. The main features are developmental delay with severe speech impairment, seizures, and behavioral abnormalities. Three patients have been reported with deletion sizes ranging from 100 to 800kb. We report on a 9-year-old boy with an apparently de novo, 50kb deletion, and global developmental delay, severe speech impairment, and generalized epilepsy well-controlled by medication. There were four genes identified in this deletion, of which SYNGAP1 is considered to be responsible for speech impairment and epilepsy. We compared the clinical features of this patient with previously reported patients with 6p21.3 and patients with SYNGAP1 mutations.

• 出版日期2013-7
• 单位河北医科大学