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February 2, 2026Balkan Medical Journal0 citationsOpen Access

A Novel Pathogenic Haplotype in CDH23 Causing DFNB12: The Combined Effect of Two Individually Benign Variants

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ZTZi-Xin TianJZJun ZhangZWZi Wang

Key Points

  • Investigate how two benign variants create a pathogenic haplotype in CDH23, leading to DFNB12.
  • Analysis of individual variants in CDH23
  • Identification of novel haplotype formation
  • Evaluation of variant effects on genetic counseling practices
  • Discovery of novel pathogenic haplotype c.3262A-c.6911A
  • Combined variants are not recognized in standard analysis pipelines
  • Findings highlight the need for improved evaluation of linked variants.

Abstract

Two individually benign variants can combine to form a novel pathogenic haplotype (c.3262A-c.6911A). This mechanism may be under-recognized in routine variant interpretation pipelines. Our findings underscore the importance of evaluating the combined effects of linked benign variants to ensure accurate genetic counseling.

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Cite This Study

Tian et al. (2026) studied this question.

synapsesocial.com/papers/6980fecbc1c9540dea8112b2https://doi.org/10.4274/balkanmedj.galenos.2026.2025-11-226
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