Dataset Information
NSDHL-containing duplication at Xq28 in a male patient with autism spectrum disorder: a case report.
Ontology highlight
ABSTRACT: Background
Autism spectrum disorder (ASD) is a neurodevelopmental disorder in which genetics plays a key aetiological role. The gene encoding NAD(P)H steroid dehydrogenase-like protein (NSDHL) is expressed in developing cortical neurons and glia, and its mutation may result in intellectual disability or congenital hemidysplasia.Case presentation
An 8-year-old boy presented with a 260-kb NSDHL-containing duplication at Xq28 (151,868,909 - 152,129,300) inherited from his mother. His clinical features included defects in social communication and interaction, restricted interests, attention deficit, impulsive behaviour, minor facial anomalies and serum free fatty acid abnormality.Conclusion
This is the first report of an ASD patient with a related NSDHL-containing duplication at Xq28. Further studies and case reports are required for genetic research to demonstrate that duplication as well as mutation can cause neurodevelopmental diseases.
SUBMITTER: Hu CC
PROVIDER: S-EPMC6208182 | biostudies-literature | 2018 Oct
REPOSITORIES: biostudies-literature
Publications
NSDHL-containing duplication at Xq28 in a male patient with autism spectrum disorder: a case report.
BMC medical genetics 20181030 1
<h4>Background</h4>Autism spectrum disorder (ASD) is a neurodevelopmental disorder in which genetics plays a key aetiological role. The gene encoding NAD(P)H steroid dehydrogenase-like protein (NSDHL) is expressed in developing cortical neurons and glia, and its mutation may result in intellectual disability or congenital hemidysplasia.<h4>Case presentation</h4>An 8-year-old boy presented with a 260-kb NSDHL-containing duplication at Xq28 (151,868,909 - 152,129,300) inherited from his mother. Hi ...[more]
