NSDHL-containing duplication at Xq28 in a male patient with autism spectrum disorder: a case report
| Autor: | Bingrui Zhou, Chun-yang Li, Qiong Xu, Chunxue Liu, Yun-Jun Sun, Xiu Xu, Chunchun Hu |
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| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Adult Male lcsh:Internal medicine 3-Hydroxysteroid Dehydrogenases lcsh:QH426-470 Autism Spectrum Disorder Autism CNV Gene Dosage Gene Expression Case Report Fatty Acids Nonesterified Bioinformatics medicine.disease_cause 03 medical and health sciences Neurodevelopmental disorder Intellectual disability Gene duplication Chromosome Duplication Genetics Medicine Humans NSDHL lcsh:RC31-1245 Child Genetics (clinical) Mutation business.industry Chromosomes Human Pair 10 medicine.disease Human genetics lcsh:Genetics 030104 developmental biology Xq28 duplication Autism spectrum disorder Female Maternal Inheritance Abnormality business |
| Zdroj: | BMC Medical Genetics BMC Medical Genetics, Vol 19, Iss 1, Pp 1-6 (2018) |
| ISSN: | 1471-2350 |
| Popis: | 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. Electronic supplementary material The online version of this article (10.1186/s12881-018-0705-7) contains supplementary material, which is available to authorized users. |
| Databáze: | OpenAIRE |
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