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Related Experiment Videos

Apert's syndrome: Study by whole exome sequencing.

Anjana Munshi1, Preeti Khetarpal1, Satrupa Das2,3

  • 1Centre for Human Genetics and Molecular Medicine, School of Health Sciences, Central University of Punjab, Bathinda, Punjab, India.

Genes & Diseases
|September 28, 2018
PubMed
Summary

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This study used whole exome sequencing (WES) to analyze Apert syndrome in a parent-child trio. The P253R mutation in the FGFR2 gene was identified, offering insights for genetic counseling.

Area of Science:

  • Genetics
  • Medical Genetics
  • Rare Diseases

Background:

  • Apert syndrome is a rare genetic disorder characterized by premature fusion of skull bones and distinctive facial features.
  • Genetic mutations, particularly in the FGFR2 gene, are known causes of Apert syndrome.
  • Accurate genetic diagnosis is crucial for understanding disease mechanisms and providing effective genetic counseling.

Purpose of the Study:

  • To investigate the genetic basis of Apert syndrome in a non-consanguineous family using a parent-child trio whole exome sequencing (WES) approach.
  • To identify specific mutations and genetic variations within the FGFR2 gene associated with Apert syndrome.
  • To establish a foundation for improved genetic counseling for families affected by Apert syndrome.

Main Methods:

Keywords:
Apert syndromeCraniosynostosisExome sequencingFGFR2 geneParent–child trio study

Related Experiment Videos

  • Whole exome sequencing (WES) was performed on a parent-child trio using the Ion Torrent System.
  • Clinical characteristics of the affected child were documented.
  • Bioinformatic analysis was conducted to identify mutations and single nucleotide polymorphisms (SNPs) in the FGFR2 gene.

    • Main Results:

    • The previously reported P253R mutation in the FGFR2 gene was confirmed in the Apert syndrome patient.
    • Two SNPs, rs1047057 and rs554851880, were identified in the FGFR2 gene with specific allelic frequencies.
    • A total of 161 completely damaging mutations were detected within the analyzed exome data.

    Conclusions:

    • This study represents the first reported use of whole exome sequencing (WES) in an Apert syndrome case for detailed genetic analysis.
    • The identification of the P253R mutation and other genetic variations provides valuable information for understanding Apert syndrome.
    • The findings support the utility of WES in diagnosing rare genetic disorders and enhancing genetic counseling services for affected families.