학술논문
Identification of a Novel Pathogenic Variant in the NAGLU Gene in a Child with Neurodevelopmental Delay.
Document Type
Case Study
Author
Source
Subject
*LANGUAGE disorder diagnosis
*GENETIC mutation
*APRAXIA
*GENETIC polymorphisms
*CHILD psychopathology
*PEOPLE with intellectual disabilities
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Language
ISSN
0162-3257
Abstract
The article describes the case of a female child with neurodevelopmental delay who has been identified with a novel pathogenic variant in the NAGLU gene. The patient underwent RASopathies genes panel analysis by Next Generation Sequencing, brain magnetic resonance imaging (MRI), Exome Sequencing and Sanger sequencing. Results revealed asymmetry of the patient's cerebellar tonsils, subarachnoid cyst in the retrovermian region, presence of cystic pinealoma and NAGLU gene frameshift deletion.