NSDHL-containing duplication at Xq28 in a male patient with autism spectrum disorder: a case report.
BMC Med Genet
; 19(1): 192, 2018 10 30.
Article
em En
| MEDLINE
| ID: mdl-30376821
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.Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Cromossomos Humanos Par 10
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Duplicação Cromossômica
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Transtorno do Espectro Autista
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Herança Materna
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3-Hidroxiesteroide Desidrogenases
Tipo de estudo:
Diagnostic_studies
Limite:
Adult
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Child
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Female
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Humans
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Male
Idioma:
En
Ano de publicação:
2018
Tipo de documento:
Article