Article
Upper limb muscle overgrowth with hypoplasia of the index finger: a new over-growth syndrome caused by the somatic PIK3CA mutation c.3140A>G.
BMC medical genetics - 4 Sept 2018
Al-Qattan Mohammad M, Hadadi Ali, Al-Thunayan Abdullah M, Eldali Ahmed A, AlBalwi Mohammed A
Abstract excerpt
BACKGROUND: Scientists have previously described an overgrowth syndrome in Saudi patients and named it 'Upper limb muscle overgrowth with hypoplasia of the index finger' syndrome. CASE PRESENTATION: We describe a new case and document that the syndrome is caused by the somatic PIK3CA mutation c.3140A>G, p.His1047Arg. We also recruited one of the previously reported cases and found the same somatic mutation in the...
Topics
- Abnormalities, Multiple
- Child
- Class I Phosphatidylinositol 3-Kinases
- Genetic Association Studies
- Growth Disorders
- Humans
- Infant
- Lipoma
- Male
- Mutation
- Phenotype