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<p>We reported the use of PCR-free nanopore long-read DNA sequencing to identify the disruption of <i>ACAN</i> gene function subsequent to apparently balanced chromosomal translocation involving chromosomes 15 and 20. This low-depth whole genome long-read sequencing has yielded 12.2-Gbp sequencing reads at 48&#xa0;h with breakpoint at intron 1 of the <i>ACAN</i> gene on chromosome 15q26.1 and a gene-free region on chromosome 20q13.33 after structural variant detection. The breakpoint at the long arm of chromosome 15 has disrupted the <i>ACAN</i> gene and led to recurrent patellar dislocation with concomitant short stature. The <i>ACAN</i> gene is inherited in an autosomal dominant manner as demonstrated in six affected members involving three generations in a Chinese family. In this study, we have demonstrated the use of advanced genomic technology to establish the molecular mechanism that benefits surgical management and improves patient care in individuals presenting with patellar dislocation and concomitant short stature.</p>

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Familial patellar dislocation and concomitant short stature due to a loss of function in ACAN gene detected by nanopore long-read sequencing

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年8月15日

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  • Lisa L. P. Siu,
  • Henry C. M. Leung,
  • Stephanie K. L. Ho,
  • Shirley S. W. Cheng,
  • Tak-wah Lam,
  • Ivan F. M. Lo,
  • Ho-ming Luk

摘要

We reported the use of PCR-free nanopore long-read DNA sequencing to identify the disruption of ACAN gene function subsequent to apparently balanced chromosomal translocation involving chromosomes 15 and 20. This low-depth whole genome long-read sequencing has yielded 12.2-Gbp sequencing reads at 48 h with breakpoint at intron 1 of the ACAN gene on chromosome 15q26.1 and a gene-free region on chromosome 20q13.33 after structural variant detection. The breakpoint at the long arm of chromosome 15 has disrupted the ACAN gene and led to recurrent patellar dislocation with concomitant short stature. The ACAN gene is inherited in an autosomal dominant manner as demonstrated in six affected members involving three generations in a Chinese family. In this study, we have demonstrated the use of advanced genomic technology to establish the molecular mechanism that benefits surgical management and improves patient care in individuals presenting with patellar dislocation and concomitant short stature.