Scholarlink

Background <p>Primary ciliary dyskinesia (PCD) is an autosomal recessive, genetically and phenotypically heterogeneous disorder characterized by impaired mucociliary clearance and recurrent respiratory infections. Although genotype–phenotype correlations are well established in PCD, intrafamilial phenotypic variability remains poorly understood. </p> Methods <p>Here, we report monozygotic twins with biallelic variants in the <i>HYDIN</i> gene who exhibit markedly discordant clinical severity and ciliary function despite an identical genetic background. Transmission electron microscopy, high-speed video microscopy, immunofluorescence, and electron tomography were used to asses ciliary structure and function.</p> Results <p>Both patients were diagnosed with PCD with normal ciliary ultrastructure. Transmission electron microscopy revealed a significantly higher proportion of secondary ciliary ultrastructural defects in patient 1, who also demonstrated a higher clinical index and distinct ciliary beating patterns on high-speed video microscopy compared with patient 2. Genetic findings were confirmed by immunofluorescence and electron tomography in both patients. Despite sharing the same pathogenic <i>HYDIN</i> variants, patient 1 exhibited a significantly higher frequency of numerical axonemal defects, correlating with altered ciliary motility and more severe clinical manifestations.</p> Conclusions <p>Monozygotic individuals with identical pathogenic <i>HYDIN</i> variants may show discordant clinical severity and ciliary function, highlighting intrafamiliar phenotypic variability in PCD. </p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Distinct Phenotypes of Primary Ciliary Dyskinesia in Monozygotic Twins with Defective HYDIN Gene: a Case Report

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2026年2月26日

查看全文
  • Dominika Pánska,
  • Dominik Pinkas,
  • Petra Dvořáková,
  • Andrea Vajsová,
  • Lenka Horáková,
  • Tereza Holeček Krištofová,
  • Andrea Holubová,
  • Jiří Uhlík

摘要

Background

Primary ciliary dyskinesia (PCD) is an autosomal recessive, genetically and phenotypically heterogeneous disorder characterized by impaired mucociliary clearance and recurrent respiratory infections. Although genotype–phenotype correlations are well established in PCD, intrafamilial phenotypic variability remains poorly understood.

Methods

Here, we report monozygotic twins with biallelic variants in the HYDIN gene who exhibit markedly discordant clinical severity and ciliary function despite an identical genetic background. Transmission electron microscopy, high-speed video microscopy, immunofluorescence, and electron tomography were used to asses ciliary structure and function.

Results

Both patients were diagnosed with PCD with normal ciliary ultrastructure. Transmission electron microscopy revealed a significantly higher proportion of secondary ciliary ultrastructural defects in patient 1, who also demonstrated a higher clinical index and distinct ciliary beating patterns on high-speed video microscopy compared with patient 2. Genetic findings were confirmed by immunofluorescence and electron tomography in both patients. Despite sharing the same pathogenic HYDIN variants, patient 1 exhibited a significantly higher frequency of numerical axonemal defects, correlating with altered ciliary motility and more severe clinical manifestations.

Conclusions

Monozygotic individuals with identical pathogenic HYDIN variants may show discordant clinical severity and ciliary function, highlighting intrafamiliar phenotypic variability in PCD.