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BMC Medical Genetics
Published in: BMC Medical Genetics 1/2018

Open Access 01-12-2018 | Case report

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

Authors: Chun-Chun Hu, Yun-Jun Sun, Chun-xue Liu, Bing-rui Zhou, Chun-yang Li, Qiong Xu, Xiu Xu

Published in: BMC Medical Genetics | Issue 1/2018

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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.
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Metadata
Title
NSDHL-containing duplication at Xq28 in a male patient with autism spectrum disorder: a case report
Authors
Chun-Chun Hu
Yun-Jun Sun
Chun-xue Liu
Bing-rui Zhou
Chun-yang Li
Qiong Xu
Xiu Xu
Publication date
01-12-2018
Publisher
BioMed Central
Published in
BMC Medical Genetics / Issue 1/2018
Electronic ISSN: 1471-2350
DOI
https://doi.org/10.1186/s12881-018-0705-7

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