SETD5 gene variant associated with mild intellectual disability - a case report

• Published in: Genetics and molecular research Vol. 16; no. 2; p. 1
• Main Authors: Stur, E, Soares, L A, Louro, I D
• Format: Journal Article
• Language: English
• Published: Brazil Fundacao de Pesquisas Cientificas de Ribeirao Preto 25.05.2017
• Subjects: Adult; Case reports; Congenital defects; Etiology; Frameshift Mutation; Gene mapping; Humans; Intellectual development; Intellectual disabilities; Intellectual Disability - genetics; Intellectual Disability - pathology; Localization; Male; Methyltransferases - genetics; Mutation; Phenotypes
• DOI: 10.4238/gmr16029615
• ISSN: 1676-5680

The recent advent of exome sequencing has allowed for the identification of pathogenic gene variants responsible for a variety of diseases that were previously clinically diagnosed, with no underlying molecular etiology. Among these conditions, intellectual disability is a prevalent heterogeneous condition, presenting itself in a large spectrum of intensity, in some cases associated with congenital malformations, behavioral and various other intellectual development alterations. Here we report on a 36-year-old male patient, with a mild intellectual disability that remained undiagnosed at the molecular level for all his life. Using Nextera Exome Sequencing, a Chr3:9.517.294 A>AC (c.3848_3849insC) SETD5 gene insertion was found. This rare variant was classified as likely pathogenic due to its frameshift nature in the gene, in which loss-of-function mutations have been previously reported to cause intellectual disability, as well as a 3p25.3 microdeletion phenotype. It is possible that this variant shows partial activity, due to its gene localization, which would explain the patient's mild phenotype when compared with other reports.