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Somatic mosaicism of a novel USH2A variant in Usher syndrome | Synapse

March 12, 2026Ophthalmic Genetics0 citations

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Somatic mosaicism of a novel USH2A variant in Usher syndrome

CZCheng-yao Zheng YJYue Jiang HCHong Chen

Key Points

This research examines a novel USH2A variant causing Usher syndrome type II and its implications for genetic counseling.
Case study focusing on a patient with Usher syndrome type II
Analysis of somatic mosaicism in genetic testing
Examination of genotype-phenotype correlations
Identification of a novel variant in the USH2A gene
Expansion of the mutational spectrum associated with Usher syndrome
Highlighting the role of somatic mosaicism in genetic counseling for sporadic cases

Abstract

This case highlights a rare genetic mechanism of Usher syndrome type II associated with somatic mosaicism. The findings expand the mutational spectrum of USH2A, refine genotype-phenotype correlations, and underscore the importance of considering somatic mosaicism in sporadic cases for accurate genetic counseling and recurrence risk assessment.

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Cite This Study

Zheng et al. (Mon,) studied this question.

synapsesocial.com/papers/69b25b0996eeacc4fcec9536 https://doi.org/https://doi.org/10.1080/13816810.2026.2628874