학술논문
CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype
Document Type
Original Paper
Author
Rodriguez-Laguna, Lara; Ibañez, Kristina; Gordo, Gema; Garcia-Minaur, Sixto; Santos-Simarro, Fernando; Agra, Noelia; Vallespín, Elena; Fernández-Montaño, Victoria E; Martín-Arenas, Rubén; del Pozo, Ángela; González-Pecellín, Héctor; Mena, Rocío; Rueda-Arenas, Inmaculada; Gomez, María V; Villaverde, Cristina; Bustamante, Ana; Ayuso, Carmen; Ruiz-Perez, Víctor L; Nevado, Julián; Lapunzina, Pablo; Lopez-Gutierrez, Juan C; Martinez-Glez, Victor
Source
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 20(8):882-889
Subject
Language
English
ISSN
1098-3600
1530-0366
1530-0366
Abstract
Purpose: 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. Here we tested the hypothesis that, although the genetic cause is not known, the tissue distribution of the clinical manifestations in CLAPO seems to follow a pattern of somatic mosaicism.Methods: We clinically evaluated a cohort of 13 patients with CLAPO and screened 20 DNA blood/tissue samples from 9 patients using high-throughput, deep sequencing.Results: We identified five activating mutations in the PIK3CA gene in affected tissues from 6 of the 9 patients studied; one of the variants (NM_006218.2:c.248T>C; p.Phe83Ser) has not been previously described in developmental disorders.Conclusion: 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.