RT Journal Article
SR Electronic
T1 CLAPO syndrome: Identification of somatic activating <em>PIK3CA</em> mutations and delineation of the natural history and phenotype
JF bioRxiv
FD Cold Spring Harbor Laboratory
SP 154591
DO 10.1101/154591
A1 Lara Rodriguez-Laguna
A1 Kristina Ibañez
A1 Gema Gordo
A1 Sixto Garcia-Minaur
A1 Fernando Santos-Simarro
A1 Noelia Agra
A1 Elena Vallespín
A1 Victoria E Fernández-Montaño
A1 Rubén Martín-Arenas
A1 Ángela del Pozo
A1 Héctor Gonzalez-Pecellín
A1 Rocío Mena
A1 Inmaculada Rueda-Arenas
A1 María V. Gomez
A1 Cristina Villaverde
A1 Ana Bustamante
A1 Carmen Ayuso
A1 Víctor L. Ruiz-Perez
A1 Julián Nevado
A1 Pablo Lapunzina
A1 Juan C. Lopez-Gutierrez
A1 Victor Martinez-Glez
YR 2017
UL http://biorxiv.org/content/early/2017/06/26/154591.abstract
AB 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&gt;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.