Macrodactyly is a rare congenital deformity characterized by gigantism of all structures of the digits. Previous reports showed that the mosaic
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.
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
Mutation analysis revealed the c.3140A>T (p.(H1047L)) variant of
The somatic c.3140A>T (p.(H1047L)) variant of