Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants.

Humans Mutation / genetics Phenotype Genotype Class I Phosphatidylinositol 3-Kinases / genetics Vascular Malformations / diagnosis p120 GTPase Activating Protein / genetics
genetic testing genotype molecular medicine phenotype sequence analysis, DNA

Journal

Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R

Informations de publication

Date de publication:
02 2023
Historique:
received: 11 07 2021
accepted: 18 02 2022
pubmed: 9 3 2022
medline: 27 1 2023
entrez: 8 3 2022
Statut: ppublish

Résumé

Postzygotic activating We performed ultradeep targeted next-generation sequencing (NGS) on DNA from skin biopsy, buccal swab or blood using a panel including phosphatidylinositol 3-kinase/AKT/mammalian target of rapamycin pathway genes and 93 of our 150 patients had We confirm that (1) molecular diagnostic yield increases when multiple tissues are tested and by enriching NGS panels with genes of overlapping 'vascular' phenotypes; (2) strongly activating

Sections du résumé

BACKGROUND
Postzygotic activating
METHODS
We performed ultradeep targeted next-generation sequencing (NGS) on DNA from skin biopsy, buccal swab or blood using a panel including phosphatidylinositol 3-kinase/AKT/mammalian target of rapamycin pathway genes and
RESULTS
93 of our 150 patients had
CONCLUSION
We confirm that (1) molecular diagnostic yield increases when multiple tissues are tested and by enriching NGS panels with genes of overlapping 'vascular' phenotypes; (2) strongly activating

Identifiants

DOI: 10.1136/jmedgenet-2021-108093 PMID: 35256403
pubmed: 35256403
pii: jmedgenet-2021-108093
doi: 10.1136/jmedgenet-2021-108093
doi:

Substances chimiques

Class I Phosphatidylinositol 3-Kinases EC 2.7.1.137
PIK3CA protein, human EC 2.7.1.137
RASA1 protein, human 0
p120 GTPase Activating Protein 0

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

163-173

Informations de copyright

© Author(s) (or their employer(s)) 2023. No commercial re-use. See rights and permissions. Published by BMJ.

Déclaration de conflit d'intérêts

Competing interests: None declared.

Auteurs

Alessandro Mussa (A)

Department of Public Health and Pediatric Sciences, Università degli Studi di Torino, Torino, Italy.
Pediatric Clinical Genetics, Regina Margherita Children's Hospital, Hospital, Città della Salute e della Scienza di Torino, Torino, Italy.
ORCID: 0000-0003-2795-6013

Chiara Leoni (C)

Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma, Italy.
ORCID: 0000-0002-4089-637X

Matteo Iacoviello (M)

Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari "Aldo Moro", Bari, Italy.

Diana Carli (D)

Department of Public Health and Pediatric Sciences, Università degli Studi di Torino, Torino, Italy.
Pediatric Onco-Hematology, Stem Cell Transplantation and Cell Therapy Division, Regina Margherita Children's Hospital, Città Della Salute e Della Scienza di Torino, Torino, Italy.
ORCID: 0000-0001-5690-6504

Carlotta Ranieri (C)

Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari "Aldo Moro", Bari, Italy.
ORCID: 0000-0002-6548-8452

Antonino Pantaleo (A)

Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari "Aldo Moro", Bari, Italy.

Paola Sabrina Buonuomo (PS)

Rare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital IRCCS, Roma, Italy.
ORCID: 0000-0002-7944-8400

Rosanna Bagnulo (R)

Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari "Aldo Moro", Bari, Italy.

Giovanni Battista Ferrero (GB)

Department of Clinical and Biological Sciences, Università degli Studi di Torino, Torino, Italy.

Andrea Bartuli (A)

Rare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital IRCCS, Roma, Italy.

Daniela Melis (D)

Department of Medicine, Surgery and Dentistry "Scuola Medica Salernitana", University of Salerno, Fisciano, Italy.

Silvia Maitz (S)

Clinical Pediatric Genetics Unit, MBBM Foundation, San Gerardo Hospital, Monza, Italy.

Daria Carmela Loconte (DC)

Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari "Aldo Moro", Bari, Italy.

Antonella Turchiano (A)

Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari "Aldo Moro", Bari, Italy.

Marilidia Piglionica (M)

Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari "Aldo Moro", Bari, Italy.

Annunziata De Luisi (A)

Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari "Aldo Moro", Bari, Italy.

Francesco Claudio Susca (FC)

Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari "Aldo Moro", Bari, Italy.

Nenad Bukvic (N)

Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari "Aldo Moro", Bari, Italy.

Cinzia Forleo (C)

Cardiology Unit, Department of Emergency and Organ Transplantation, Università degli Studi di Bari "Aldo Moro", Bari, Italy.

Angelo Selicorni (A)

Pediatric Department, ASST Lariana, Monza, Italy.

Giuseppe Zampino (G)

Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma, Italy.

Roberta Onesimo (R)

Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma, Italy.

Gerarda Cappuccio (G)

Department of Translational Medicine, Federico II University Hospital, Napoli, Italy.

Livia Garavelli (L)

Medical Genetics Unit, Mother and Child Health Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.

Chiara Novelli (C)

Department of Clinical Sciences and Community Health, Università degli Studi di Milano, Milano, Italy.

Luigi Memo (L)

Department of Pediatrics, Neonatal Intensive Care Unit, San Bortolo Hospital of Vicenza, Vicenza, Italy.

Carla Morando (C)

Department of Pediatrics, Neonatal Intensive Care Unit, San Bortolo Hospital of Vicenza, Vicenza, Italy.

Matteo Della Monica (M)

Medical Genetics Unit, Cardarelli Hospital, Napoli, Italy, Italy.

Maria Accadia (M)

Medical Genetics Unit, Hospital "Cardinale G. Panico", Tricase, Italy.

Martina Capurso (M)

Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari "Aldo Moro", Bari, Italy.

Carmelo Piscopo (C)

Medical Genetics Unit, Cardarelli Hospital, Napoli, Italy, Italy.

Anna Cereda (A)

Pediatric Department, ASST Papa Giovanni XXIII, Bergamo, Italy.

Marilena Carmela Di Giacomo (MC)

Unit of Pathology and Medical Genetics, AOR Ospedale "San Carlo", Potenza, Italy.

Veronica Saletti (V)

Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.

Alessandro Mauro Spinelli (AM)

Regional Coordinating Center for Rare Diseases, University Hospital, Udine, Italy, Italy.
ORCID: 0000-0003-1902-8209

Patrizia Lastella (P)

Centro Sovraziendale di Assistenza e Ricerca per le Malattie Rare, Internal Medicine Unit 'C. Frugoni', Ospedale Consorziale Policlinico di Bari, Bari, Italy.

Romano Tenconi (R)

Department of Pediatrics, Clinical Genetics, Universita degli Studi di Padova, Padova, Italy.

Veronika Dvorakova (V)

Dermatology Clinic, Our Lady's Children's Hospital Crumlin, Dublin, Ireland.

Alan D Irvine (AD)

Dermatology Clinic, Our Lady's Children's Hospital Crumlin, Dublin, Ireland.

Nicoletta Resta (N)

Department of Biomedical Sciences and Human Oncology, Università degli Studi di Bari "Aldo Moro", Bari, Italy nicoletta.resta@uniba.it.
ORCID: 0000-0001-8640-5532

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Genotypes and phenotypes heterogeneity in...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Genotypes and phenotypes heterogeneity in...
questionsmedicales.fr › Phénomènes génétiques › Phénotype › Genotypes and phenotypes heterogeneity in...
questionsmedicales.fr › Phénomènes génétiques › Génotype › Genotypes and phenotypes heterogeneity in...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines et peptides de signalisation intracellulaire › Phosphatidylinositol 3-kinases › Phosphatidylinositol-4-phosphate 3-kinase › Phosphatidylinositol 3-kinases de classe I › Genotypes and phenotypes heterogeneity in...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Malformations › Malformations cardiovasculaires › Anomalies vasculaires › Genotypes and phenotypes heterogeneity in...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines et peptides de signalisation intracellulaire › Régulateurs des protéines G › Protéines d'activation de la GTPase › Protéines d'activation de la ras GTPase › Protéine p120 d'activation de la ras GTPase › Genotypes and phenotypes heterogeneity in...