Journal
JOURNAL OF HAND SURGERY-EUROPEAN VOLUME
Volume 43, Issue 7, Pages 756-760Publisher
SAGE PUBLICATIONS LTD
DOI: 10.1177/1753193418770366
Keywords
Macrodactyly; PIK3CA mutation; PIK3CA-related overgrowth spectrum; Sanger DNA sequencing
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Funding
- Beijing Municipal Administration of Hospitals Youth Program [QML20170402]
- University of Utah School of Medicine Department of Pathology/ARUP Laboratories Faculty Development Fund
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Somatic PIK3CA mutations may relate to pathogenesis of isolated macrodactyly. We set up to test the association between PIK3CA mutations with isolated macrodactyly in order to establish a more accurate and molecular mechanism-based diagnosis and classification. DNA extracted from affected tissues in 12 individuals with isolated macrodactyly was tested for PIK3CA mutation using targeted Sanger DNA sequencing. Ten patients had macrodactyly in the foot and two in the hand. Nine of the 12 patients were found to carry a low-level, mosaic PIK3CA mutation. The mutations identified, p.His1047Arg, p.His1047Leu, p.Glu545Lys, and p.Glu542Lys, are codons frequently mutated in cancers. Among all tissues tested, adipose had the highest mutation detection rate, followed by nerve and skin. Our results indicate that a high proportion of isolated macrodactyly patients carry a pathogenic PIK3CA mutation. Affected adipose, nerve and skin tissues are ideal for PIK3CA mutation analysis.
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