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

Chun-Chun Hu,Yun-Jun Sun,Chun-Yang Li,Bing-Rui Zhou,Qiong Xu,Xiu Xu,Chun-Xue Liu

doi:10.1186/s12881-018-0705-7

Abstract

BackgroundAutism 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 presentationAn 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.ConclusionThis 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.

Highlights

Autism spectrum disorder (ASD) is a neurodevelopmental disorder in which genetics plays a key aetiological role
We report an 8-year-old boy diagnosed with ASD and possessing a 260-kb NAD(P)H steroid dehydrogenase-like protein (NSDHL)-containing duplication at Xq28 inherited from his mother; this constitutes the first report of an ASD patient with a related NSDHL-containing duplication at Xq28
The qPCR result of DNA confirmed that the patient had inherited the NSDHL duplication from his mother and that his father carried a normal sequence; RNA analysis showed that the patient expressed almost threefold the RNA compared to normal males (Fig. 1c)

Summary

Background

Autism spectrum disorder (ASD) is a neurodevelopmental disorder that is defined in DSM-5 [1] as persistent deficits in social communication and social interaction across multiple contexts in conjunction with restricted, repetitive patterns, interests, or activities as manifested by at least two prototypically inflexible behaviours [2]. The patient underwent careful clinical observation, detailed examination, and comprehensive medical history recording and demonstrated symptoms of social deficiency, restricted interests, attention deficit and impulsive behaviour but normal cognition. Both of the patient’s parents completed the combined Raven’s Test (CRT) [23] and scored in the normal range When consulting with both parents, we observed that the mother, who carried the NSDHL-containing duplication, exhibited a quick temper and irritability. The patient fulfilled the criteria for ASD diagnosis His clinical features included defects in social communication and interaction, restricted interests, attention deficit, impulsive behaviour, minor facial anomalies and showed abnormal serum free fatty acids. The qPCR result of DNA confirmed that the patient had inherited the NSDHL duplication from his mother and that his father carried a normal sequence; RNA analysis showed that the patient expressed almost threefold the RNA compared to normal males (Fig. 1c). The WES of the core family trio did not reveal any causative variants (See Additional file 3)

Discussion and conclusions

11.55 Mb De novo