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BMC Med Genet. 2018 Oct 30;19(1):192. doi: 10.1186/s12881-018-0705-7.

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

Author information

1
Department of Child Healthcare, Children's Hospital of Fudan University, Shanghai, 201102, China.
2
Institute of Neuroscience, State Key Laboratory of Neuroscience, CAS Center for Excellence in Brain Science and Intelligence Technology, Chinese Academy of Sciences, Shanghai, 200031, China. sunyunjun@ion.ac.cn.
3
Department of Child Healthcare, Children's Hospital of Fudan University, Shanghai, 201102, China. xuxiu@fudan.edu.cn.

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.

KEYWORDS:

Autism; CNV; NSDHL; Xq28 duplication

PMID:
30376821
PMCID:
PMC6208182
DOI:
10.1186/s12881-018-0705-7
[Indexed for MEDLINE]
Free PMC Article

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