From Whole Gene Deletion to Point Mutations ofEP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks-Reference-Cited by-同舟云学术

From Whole Gene Deletion to Point Mutations ofEP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks

Published:2015-11-04 Issue:2 Volume:37 Page:175-183
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Negri Gloria¹,Magini Pamela²,Milani Donatella³,Colapietro Patrizia¹,Rusconi Daniela¹,Scarano Emanuela⁴,Bonati Maria Teresa⁵,Priolo Manuela⁶,Crippa Milena⁷,Mazzanti Laura⁴,Wischmeijer Anita²,Tamburrino Federica⁴,Pippucci Tommaso²,Finelli Palma⁷⁸,Larizza Lidia¹⁷,Gervasini Cristina¹

Affiliation:

1. Genetica Medica, Dipartimento di Scienze della Salute; Università degli Studi di Milano; Milano Italia

2. Laboratorio di Genetica Medica, Dipartimento di Scienze Mediche e Chirurgiche; Policlinico Ospedaliero Universitario S. Orsola-Malpighi; Bologna Italia

3. Unità di Pediatria ad alta Intensità di Cura; Fondazione IRCCS Ca’ Granda; Milano Italia

4. UO di Endocrinologia Pediatrica e Malattie Rare, Dipartimento di Pediatria; Ospedale Universitario S. Orsola Malpighi; Università degli Studi di Bologna; Bologna Italia

5. Clinica di Genetica Medica; IRCCS Istituto Auxologico Italiano; Milano Italia

6. UOC Genetica Medica; Azienda Ospedaliera Bianchi-Melacrino-Morelli; Reggio Calabria Italia

7. Laboratorio di Citogenetica e Genetica Molecolare; Centro di Ricerche e Tecnologie Biomediche; IRCCS Istituto Auxologico Italiano; Milano Italia

8. Dipartimento di Biotecnologie Mediche e Medicina Traslazionale; Università degli Studi di Milano; Milano Italia

Funder

Associazione RTS Una Vita Speciale ONLUS

Progetto accordo quadro Regione Lombardia-Università lombarde ADPQ SAL31

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference58 articles.

1. Haploinsufficiency of the MLL and TOB2 genes in lymphoid malignancy;An;Leukemia,2010

2. Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300;Bartholdi;J Med Genet,2007

3. Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome;Bartsch;Am J Med Genet A,2010

4. Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP;Bartsch;J Med Genet,2002

5. DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS;Bartsch;Hum Genet,2005

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