CLAPO syndrome: Identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype
Background: CLAPO syndrome is a rare vascular disorder characterized by Capillary malformation of the lower lip, Lymphatic malformation predominant on the face and neck, Asymmetry, and Partial/generalized Overgrowth. Although the genetic cause is not known, the tissue distribution of the clinical ma...
Saved in:
Published in | bioRxiv |
---|---|
Main Authors | , , , , , , , , , , , , , , , , , , , , , |
Format | Paper |
Language | English |
Published |
Cold Spring Harbor
Cold Spring Harbor Laboratory Press
26.06.2017
|
Subjects | |
Online Access | Get full text |
Cover
Loading…
Summary: | Background: CLAPO syndrome is a rare vascular disorder characterized by Capillary malformation of the lower lip, Lymphatic malformation predominant on the face and neck, Asymmetry, and Partial/generalized Overgrowth. Although the genetic cause is not known, the tissue distribution of the clinical manifestations in CLAPO seems to follow a pattern of somatic mosaicism. Subjects and methods: We clinically evaluated a cohort of 13 patients with CLAPO and screened 20 DNA blood/tissue samples from nine patients using high-throughput, deep sequencing. Results: We identified five activating mutations in the PIK3CA gene in affected tissues from six of the nine patients studied; one of the variants (NM_006218.2:c.248T>C; p.Phe83Ser) has not been previously described in developmental disorders. Conclusions: We describe for the first time the presence of somatic activating PIK3CA mutations in patients with CLAPO. We also report an update of the phenotype and natural history of the syndrome. |
---|---|
DOI: | 10.1101/154591 |