Microdeletion 3q13.33-3q21.2: A Rare Cause of Neurodevelopmental Disorder
Yi Juan Huang1,2, Rong Pu Jia1,2, Yuan Qiu Chen1,2
1Department of Obstetrics and Gynecology, Sixth Affiliated Hospital of Sun Yat-Sen University, Guangzhou, China.
Journal of Pediatric Genetics
|November 6, 2024
Summary
A rare microdeletion on chromosome 3q13.33q21.2 was identified in two patients with neurodevelopmental disorders. This genetic alteration may explain their developmental delays and associated conditions.
Area of Science:
- Genetics
- Neuroscience
Background:
- Sub-microscopic chromosomal imbalances, including microdeletions and microduplications, are linked to various genetic disorders.
- Neurodevelopmental disorders can arise from complex genetic factors.
Purpose of the Study:
- To investigate the potential role of microdeletion 3q13.33q21.2 in neurodevelopmental disorder.
- To identify candidate genes within the deleted region contributing to disease phenotypes.
Main Methods:
- Chromosomal microarray analysis (CMA) was used to detect the microdeletion.
- Next-generation sequencing (NGS) was employed to rule out allelic mutations within the region.
- Database analysis (UCSC) was performed to screen for relevant genes.
Main Results:
- A microdeletion in the 3q13.33q21.2 region was identified in two affected family members.
- Patient 4 presented with neurodevelopmental disorder and a dilated left third ventricle.
- Patient 6 exhibited attention deficit hyperactivity disorder, short stature, intellectual disability, and epilepsy.
Conclusions:
- The 3q13.33q21.2 microdeletion is a likely cause of neurodevelopmental disorder in the studied patients.
- Genes such as ADCY5 and SEMA5B within the deleted region are implicated in neurodevelopmental issues.
- The CASR gene in this region may be associated with the observed epilepsy.
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