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Updated: Jan 26, 2026

Flow-sorting and Exome Sequencing of the Reed-Sternberg Cells of Classical Hodgkin Lymphoma
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Identification of novel mutations in preaxial polydactyly patients through whole-exome sequencing

Tao Wang1, Zhaopeng Xuan1, Yichen Dou1

  • 1Department of hand surgery, The First Hospital of Jilin University, Changchun, Jilin, China.

Molecular Genetics & Genomic Medicine
|April 18, 2019
PubMed

Insights

Genetic analysis identified novel mutations in GLI3 and EVC genes causing polydactyly, a common hereditary limb malformation. This research deepens our understanding of primary cilia

Area of Science:

  • Genetics
  • Developmental Biology
  • Molecular Biology

Background:

  • Polydactyly is a frequent hereditary limb malformation involving extra digits.
  • Surgical removal of extra digits is a common treatment in early childhood.
  • Genetic mutations in digit formation genes underlie polydactyly.

Purpose of the Study:

  • To investigate the genetic causes of polydactyly in Chinese patients.
  • To identify specific gene mutations associated with preaxial polydactyly.
  • To elucidate the molecular mechanisms of limb development and polydactyly.

Main Methods:

  • Genetic analysis of DNA samples from 20 Chinese polydactyly patients.
  • Whole-exome sequencing (WES) to identify genetic mutations.
  • Analysis of mutations in GLI3, EVC, and KIAA0586 genes.

Main Results:

  • Identified two novel heterozygous mutations: c.G2844A in GLI3 and c.1409_1410del in EVC.
  • Detected compound heterozygous mutations affecting KIAA0586.
  • These genes are crucial for primary cilia function and sonic hedgehog signaling.

Conclusions:

  • Highlights the critical role of primary cilia in limb development.
  • Advances understanding of the molecular basis of polydactyly.
  • Provides insights into genetic factors contributing to limb malformations.
Abstract

Keywords:
ciliaciliopathieslimb malformationpolydactylysonic hedgehog signaling pathway

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