Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome : case report and review of the literature
Aguilera, Cinthia (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT))
Viñas-Jornet, Marina (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT))
Baena Díez, Neus (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT))
Gabau, Elisabeth (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT))
Fernández, Concepción (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT))
Capdevila, Núria (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT))
Cirkovic, Sanja (Mother and Child Health Care Institute of Serbia "Dr Vukan Cupic")
Sarajlija, Adrijan (Mother and Child Health Care Institute of Serbia "Dr Vukan Cupic")
Miskovic, Marijana (Mother and Child Health Care Institute of Serbia "Dr Vukan Cupic")
Radivojevic, Danijela (Mother and Child Health Care Institute of Serbia "Dr Vukan Cupic")
Ruiz, Anna (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT))
Guitart, Maria (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT))
Universitat Autònoma de Barcelona

Date:	2017
Abstract:	Patients with Angelman syndrome (AS) are affected by severe intellectual disability with absence of speech, distinctive dysmorphic craniofacial features, ataxia and a characteristic behavioral phenotype. AS is caused by the lack of expression in neurons of the UBE3A gene, which is located in the 15q11. 2-q13 imprinted region. Functional loss of UBE3A is due to 15q11. 2-q13 deletion, mutations in the UBE3A gene, paternal uniparental disomy and genomic imprinting defects. We report here two patients with clinical features of AS referred to our hospital for clinical follow-up and genetic diagnosis. Methylation Specific-Multiplex Ligation-Dependent Probe Amplification (MS-MLPA) of the 15q11. 2-q13 region was carried out in our laboratory as the first diagnostic tool detecting two novel UBE3A intragenic deletions. Subsequently, the MLPA P336-A2 kit was used to confirm and determine the size of the UBE3A deletion in the two patients. A review of the clinical features of previously reported patients with whole UBE3A gene or partial intragenic deletions is presented here together with these two new patients. Although rare, UBE3A intragenic deletions may represent a small fraction of AS patients without a genetic diagnosis. Testing for UBE3A intragenic exonic deletions should be performed in those AS patients with a normal methylation pattern and no mutations in the UBE3A gene.
Grants:	Instituto de Salud Carlos III PI16-01411
Note:	Altres ajuts: The financial support for carrying out this work was received from Fundació Parc Taulí- Institut d'Investigació i Innovació Parc Taulí I3PT (CIR2015/040), Asociación Española de Síndrome de Angelman [...].
Rights:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Language:	Anglès
Document:	Article ; altres ; Versió publicada
Subject:	Angelman syndrome (AS) ; UBE3A ; Intragenic deletions ; MLPA
Published in:	BMC Medical Genetics, Vol. 18 (november 2017) , ISSN 1471-2350

DOI: 10.1186/s12881-017-0500-x
PMID: 29162042

7 p, 945.0 KB

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Research literature > UAB research groups literature > Research Centres and Groups (research output) > Health sciences and biosciences > Parc Taulí Research and Innovation Institute (I3PT
Articles > Published articles