SETD5 gene variant associated with mild intellectual disability - a case report
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 co...
Saved in:
Published in | Genetics and molecular research Vol. 16; no. 2; p. 1 |
---|---|
Main Authors | , , |
Format | Journal Article |
Language | English |
Published |
Brazil
Fundacao de Pesquisas Cientificas de Ribeirao Preto
25.05.2017
|
Subjects | |
Online Access | Get full text |
Cover
Loading…
Summary: | 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. |
---|---|
Bibliography: | ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3 |
ISSN: | 1676-5680 1676-5680 |
DOI: | 10.4238/gmr16029615 |