NSDHL-containing duplication at Xq28 in a male patient with autism spectrum disorder: a case report.

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 dupli

SUBMITTER: Hu CC 

PROVIDER: S-EPMC6208182 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature