CLAPO syndrome: Identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype
| العنوان: | CLAPO syndrome: Identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype |
|---|---|
| المؤلفون: | Maria V. Gomez, Kristina Ibáñez, Fernando Santos-Simarro, Hector Gonzalez-Pecellin, Lara Rodriguez-Laguna, Ana Bustamante, Juan Carlos López-Gutiérrez, Cristina Villaverde, Elena Vallespín, Gema Gordo, Noelia Agra, Angela del Pozo, Pablo Lapunzina, Victor L. Ruiz-Perez, Julián Nevado, Victoria E. Fernandez-Montano, Sixto García-Miñaur, Carmen Ayuso, Rubén Martín-Arenas, Rocío Mena, Victor Martinez-Glez, Inmaculada Rueda-Arenas |
| المساهمون: | Asociación Ultrafondo Solidario, Villarreal FC, Corporación de Radio y Televisión Española, Fundación Isabel Gemio, Instituto de Salud Carlos III, Federación Española de Enfermedades Neuromusculares, Federación Española de Enfermedades Raras, Fundación Conchita Rábago de Jiménez Díaz, Universidad Autónoma de Madrid |
| المصدر: | Digital.CSIC. Repositorio Institucional del CSIC instname |
| بيانات النشر: | Cold Spring Harbor Laboratory, 2017. |
| سنة النشر: | 2017 |
| مصطلحات موضوعية: | 0301 basic medicine, Adult, Male, Pathology, medicine.medical_specialty, Adolescent, Capillary malformation, Class I Phosphatidylinositol 3-Kinases, Somatic cell, 030105 genetics & heredity, Biology, Deep sequencing, CLAPO, Overgrowth, Arteriovenous Malformations, 03 medical and health sciences, Phosphatidylinositol 3-Kinases, medicine, Humans, Child, Lymphatic Diseases, Genetics (clinical), Genetic Association Studies, Retrospective Studies, Genetics, business.industry, Vascular malformation, High-Throughput Nucleotide Sequencing, PIK3CA, medicine.disease, Phenotype, Somatic mosaicism, Natural history, 030104 developmental biology, Lymphatic system, Mutation, Cohort, Vascular Disorder, Female, business |
| الوصف: | [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. This research was supported by the project “Genetics of vascular and lymphatic malformations” financed with funds donated by Asociación Ultrafondo and Villareal FC, cofinanced by project IP-17 from the funding call “Todos Somos Raros” (Telemaraton TVE promoted by Fundación Isabel Gemio, Federación ASEM, and Federación Española de Enfermedades Raras), cofinanced by the Instituto de Salud Carlos III, FEDER FUNDS FIS PI15/01481, and IIS-Fundación Jiménez Díaz UAM Genome Medicine Chair. |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::650b41c7c89879fd045c7aa85fa20ea0Test https://doi.org/10.1101/154591Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....650b41c7c89879fd045c7aa85fa20ea0 |
| قاعدة البيانات: | OpenAIRE |
| الوصف غير متاح. |