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An investigation of PIK3CA mutations in isolated macrodactyly

Jingheng Wu1, Wei Tian2, Guanglei Tian1

  • 11 Peking University Fourth School of Clinical Medicine; Hand Surgery Department of Beijing Jishuitan Hospital, Beijing, China.

The Journal of Hand Surgery, European Volume
|April 18, 2018
PubMed

Insights

Somatic PIK3CA mutations are linked to isolated macrodactyly, a rare condition. This study found pathogenic PIK3CA mutations in most affected individuals, suggesting a key role in disease development.

Area of Science:

  • Genetics
  • Molecular Biology
  • Dermatology

Background:

  • Isolated macrodactyly is a rare congenital condition affecting limb growth.
  • The underlying molecular mechanisms of isolated macrodactyly remain incompletely understood.
  • Somatic mutations in the PIK3CA gene are implicated in various overgrowth syndromes.

Purpose of the Study:

  • To investigate the association between PIK3CA gene mutations and isolated macrodactyly.
  • To explore the potential of PIK3CA mutation analysis for improved diagnosis and classification of isolated macrodactyly.
  • To identify specific PIK3CA mutation hotspots relevant to this condition.

Main Methods:

  • Targeted Sanger DNA sequencing was performed on DNA extracted from affected tissues of 12 individuals with isolated macrodactyly.
  • Analysis focused on identifying mutations within frequently altered codons of the PIK3CA gene.
  • Mutation detection rates were compared across different tissue types, including adipose, nerve, and skin.

Main Results:

  • A significant proportion (9 out of 12) of patients with isolated macrodactyly harbored low-level, mosaic PIK3CA mutations.
  • Identified PIK3CA mutations included p.His1047Arg, p.His1047Leu, p.Glu545Lys, and p.Glu542Lys, common in oncogenesis.
  • Adipose tissue demonstrated the highest mutation detection rate, followed by nerve and skin tissues.

Conclusions:

  • Pathogenic PIK3CA mutations are prevalent in patients with isolated macrodactyly.
  • These findings support a crucial role for PIK3CA mutations in the pathogenesis of isolated macrodactyly.
  • Affected adipose, nerve, and skin tissues are optimal for PIK3CA mutation analysis in this condition.
Keywords:
MacrodactylyPIK3CA mutationPIK3CA-related overgrowth spectrumSanger DNA sequencing

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