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Catalog
2023 ACMG Annual Clinical Genetics Meeting Digital ...
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de novo
Xq13.2-13.3 Duplication Associa ...
A
de novo
Xq13.2-13.3 Duplication Associated With Non-Syndromic Intellectual Disability
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Pdf Summary
This study focuses on a case of non-syndromic intellectual disability (NSID) in a five-year-old boy. The goal is to identify the genetic factors underlying NSID in the patient, specifically a copy number variation (CNV) at a specific chromosomal region (Xq13.2-13.3). The researchers used array comparative genomic hybridization (aCGH) to identify a 509 kb microduplication in this region, specifically affecting the SLC16A2 gene. This is one of the smallest microduplication loci associated with NSID. <br /><br />The study found that the duplication of SLC16A2 is a de novo variant, not inherited from the mother, and it is unclear if the duplication of this gene directly causes NSID. Further functional assays are needed to investigate the impact of SLC16A2 overexpression on neuronal pathways and brain development.<br /><br />The study also discusses the role of SLC16A2 in neuronal proliferation and differentiation. Animal studies have shown that SLC16A2 can influence neurons and decrease cell proliferation, possibly by inducing cell differentiation. Loss-of-function mutations and missense mutations in SLC16A2 have been implicated in intellectual disability, specifically Allan-Herndon-Dudley Syndrome.<br /><br />Overall, the study highlights the importance of genetic factors in NSID and identifies SLC16A2 as a candidate gene associated with NSID. However, further research is needed to understand the exact role of SLC16A2 duplication in causing NSID and its impact on neuronal pathways and brain development.
Asset Subtitle
Co-Author - Grace Tan, BSc; Co-Author - Chun-Ping Liu, BMed; Presenting Author - Poh-San Lai, PhD;
Meta Tag
array CGH
Intellectual disability
Molecular Cytogenetics
Co-Author
Grace Tan, BSc
Co-Author
Chun-Ping Liu, BMed
Presenting Author
Poh-San Lai, PhD
Keywords
non-syndromic intellectual disability
copy number variation
chromosomal region
array comparative genomic hybridization
microduplication
SLC16A2 gene
neuronal pathways
brain development
loss-of-function mutations
Allan-Herndon-Dudley Syndrome
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