Molecular Analysis of Hotspot Regions of ARX and MECP2 Genes in Intellectual Disability and Cornelia De Lange Syndrome

作者：Kulkarni Gayatri; Ranade Suvidya^*

来源：International Journal of Human Genetics, 2017, 17(2): 56-63.

DOI：10.1080/09723757.2017.1351119

• Mental Retardation (MR)
• Intellectual Disability (ID)
• Syndromic ID (SID)
• Cornelia De Lange Syndrome (CdLS)
• Non-syndromic ID (NSID)

Intellectual disability is a generalized developmental disorder. The present paper is focused on mutational screening of ARX and MECP2 genes in syndromic (Cornelia.De Lange Syndrome cases (CdLS)) and non-syndromic intellectual disability. Mutational analysis was carried out by PCR followed by conformation sensitive gel electrophoresis and sequencing. In CdLS cases two polymorphisms were obtained in ARX gene where one of these was probably deleterious polymorphism. In NSID cases total five polymorphisms were obtained in ARX gene, where one was probably deleterious polymorphism. The MECP2 gene showed presence of one polymorphism which was known deleterious variant. Except one all sequence variants found in this paper were novel.

• 出版日期2017-6