Novel NUS1 deletion and 20q13.33 duplication in a pediatric patient with neurodevelopmental disorder and ataxia: A case report
Year: 2025
Type: article
Study design: Case Report
Abstract: This report describes the case of a 9-year-old girl presenting with global developmental delay, intellectual disability, features of autism spectrum disorder, ataxia, and tremors.Comprehensive genetic analyses using both chromosomal microarray analysis and whole genome sequencing identified chromosomal and single-gene variations.Chromosomal microarray analysis revealed a 20q13.33duplication encompassing genes critical for neuronal function and development.Subsequent whole genome sequencing further identified a novel NUS1 mutation which was further identified in her mother, who exhibited milder neurological manifestations.The concurrent presence of both genetic alterations may explain the more severe phenotype observed in the proband compared to the mother.This report underscores the importance of integrated genetic testing, such as dual chromosomal microarray analysis and whole genome sequencing, in diagnosing complex pediatric neurodevelopmental disorders.
Source: Journal of genetic medicine
Authors: Ki-Soo Kang, Kyoung Hee Han, So Young Lee, Jun Hwan Choi, Hyun Jung Lee
Institutions: Jeju National University Hospital, Jeju National University
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W7117570111