Dataset Information
Novel SETBP1 mutation in a chinese family with intellectual disability.
Ontology highlight
ABSTRACT: Background
Intellectual disability (ID) is characterized by an IQ < 70, which implies below-average intellectual function and a lack of skills necessary for daily living. ID may occur due to multiple causes, such as metabolic, infectious, and chromosomal causes. ID affects approximately 1-3% of the population; however, the cause can be identified in only 25% of clinical patients.Methods
To find the cause of genetic ID in a family, we performed whole-exome sequencing and Sanger sequencing to confirm the presence of a SETBP1 variant and real-time quantitative polymerase chain reaction to detect SETBP1 expression in the proband and normal controls.Results
A novel variant, c.942_943insGT (p. Asp316TrpfsTer28), was found in SETBP1. Furthermore, we observed that SETBP1 expression in patients was only 20% that of normal controls (P < 0.05).Conclusion
A heterozygous variant in SETBP1 associated with ID was found. This report provides further evidence for its genetic basis and support for clinical genetic diagnosis.
SUBMITTER: Wang L
PROVIDER: S-EPMC10552191 | biostudies-literature | 2023 Oct
REPOSITORIES: biostudies-literature
Publications
Novel SETBP1 mutation in a chinese family with intellectual disability.
BMC medical genomics 20231005 1
<h4>Background</h4>Intellectual disability (ID) is characterized by an IQ < 70, which implies below-average intellectual function and a lack of skills necessary for daily living. ID may occur due to multiple causes, such as metabolic, infectious, and chromosomal causes. ID affects approximately 1-3% of the population; however, the cause can be identified in only 25% of clinical patients.<h4>Methods</h4>To find the cause of genetic ID in a family, we performed whole-exome sequencing and Sanger se ...[more]
