A somatic PIK3CA p.H1047L mutation in a Thai patient with isolated macrodactyly: a case report
Article Category: Clinical report
Published Online: Dec 19, 2019
Page range: 33 - 36
DOI: https://doi.org/10.1515/abm-2019-0037
Keywords
© 2019 Wandee Udomchaiprasertkul et al., published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.
Background
Macrodactyly is a rare congenital deformity characterized by gigantism of all structures of the digits. Previous reports showed that the mosaic
Objectives
To determine the genetic alteration in a Thai patient with enlarged soft tissue of the left middle and left fourth fingers with abnormal enlarged phalanges.
Method
A nerve and a skin piece were separated from a therapeutically surgically removed part of the enlarged digit. Skin fibroblasts were cultured from the removed skin piece. DNA was isolated from the nerve tissue, cultured skin fibroblasts, and peripheral blood leukocytes. Polymerase chain reaction (PCR) followed by Sanger sequencing of
Results
Mutation analysis revealed the c.3140A>T (p.(H1047L)) variant of
Conclusion
The somatic c.3140A>T (p.(H1047L)) variant of