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2023 ACMG Annual Clinical Genetics Meeting Digital ...
Novel Partial MBD5 Duplication in A Patient Expand ...
Novel Partial MBD5 Duplication in A Patient Expands and Refines the Phenotypic Spectrum of 2q23.1 Duplication Syndrome
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This document presents a case study of a patient with a novel partial duplication of the MBD5 gene located at chromosome 2q23.1. The study aims to expand and refine the phenotypic spectrum of 2q23.1 duplication syndrome, which is characterized by neurodevelopmental disorders such as developmental delay, language delay, and intellectual disability. The study begins with a literature review to identify all reported individuals with 2q23.1 duplications. A total of 49 unique individuals with the syndrome are identified.<br /><br />The patient in this case study has one of the smallest reported duplications that includes all coding regions of MBD5. The patient's clinical phenotype is compared to individuals found in the literature and various databases, revealing unique characteristics of ataxia, dysarthria, and nystagmus. Additionally, the patient's elevated levels of MBD5 mRNA expression further support the role of MBD5 as a dosage-dependent factor in 2q23.1 duplication syndrome. The patient also presents with hypotonia, suggesting cerebellar involvement.<br /><br />Further analysis of the patient's duplication location reveals a heterozygous copy number gain of chromosomal material at 2q23.1, involving genes MBD5, EPC2, and KIF5C. This finding provides insight into the molecular aspects of the syndrome.<br /><br />Overall, this study contributes to the understanding of 2q23.1 duplication syndrome by presenting a novel case and comparing the patient's phenotype to previously reported individuals. The findings enhance the phenotypic spectrum of the syndrome and highlight the importance of MBD5 in its manifestation. Further research is needed to explore the impact of dysregulation of MBD5 on the cerebellum.
Asset Subtitle
Presenting Author - Jonathan Chang, student DO; Co-Author - Richard Webster, MD; Co-Author - Greg Peters, PhD, FFSc(RCPA), FHGSA; Co-Author - Sondhya Ghedia, MD; Co-Author - Sureni V. Mullegama;
Meta Tag
Clinical Cytogenetics
Delineation of Diseases
Genotype-Phenotype Correlations
Intellectual disability
Microarray
Molecular Cytogenetics
Co-Author
Richard Webster, MD
Co-Author
Greg Peters, PhD, FFSc(RCPA), FHGSA
Co-Author
Sondhya Ghedia, MD
Co-Author
Sureni V. Mullegama
Presenting Author
Jonathan Chang, student DO
Keywords
2q23.1 duplication syndrome
MBD5 gene duplication
neurodevelopmental disorders
developmental delay
language delay
intellectual disability
ataxia
dysarthria
nystagmus
hypotonia
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