Intragenic deletion of UBE3A gene in 2 sisters with Angelman syndrome detected by MLPA

2011 ◽  
Vol 155 (12) ◽  
pp. 3170-3173 ◽  
Author(s):  
Juliette Piard ◽  
Christel Depienne ◽  
Boris Keren ◽  
Estelle Fédirko ◽  
Oriane Trouillard ◽  
...  
Keyword(s):  
Angelman Syndrome ◽  
Intragenic Deletion ◽  
Ube3a Gene

Angelman Syndrome due to a Maternally Inherited Intragenic Deletion Encompassing Exons 7 and 8 of the UBE3A Gene

2017 ◽  
Vol 152 (3) ◽  
pp. 132-136
Author(s):  
Athina Ververi ◽  
Lily Islam ◽  
Beverley Bewes ◽  
Louise Busby ◽  
Caroline Sullivan ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Angelman Syndrome ◽  
Array Cgh ◽  
De Novo ◽  
Uniparental Disomy ◽  
Genetic Mechanism ◽  
Paternal Allele ◽  
Speech Impairment ◽  
Intragenic Deletion ◽  
Ube3a Gene

Angelman syndrome (AS) is characterised by developmental delay, lack of speech, seizures, a characteristic behavioural profile with a happy demeanour, microcephaly, and ataxia. More than two-thirds of cases are due to an approximately 5-Mb interstitial deletion of the imprinted region 15q11.2q13, which is usually de novo. The rest are associated with point mutations in the UBE3A gene, imprinting defects, and paternal uniparental disomy. Small intragenic UBE3A deletions have rarely been described. They are usually maternally inherited, increasing the recurrence risk to 50%, and may be missed by conventional testing (methylation studies and UBE3A gene sequencing). We describe a boy with AS due to an 11.7-kb intragenic deletion. The deletion was identified by array-CGH and was subsequently detected in his affected first cousin and unaffected maternal grandfather, mother, and aunt, confirming the silencing of the paternal allele. The patient had developmental delay, speech impairment, a happy demeanour, microcephaly, and an abnormal EEG, but no seizures by the age of 4 years. Delineation of the underlying genetic mechanism is of utmost importance for reasons of genetic counselling, as well as appropriate management and prognosis. Alternative techniques, such as array-CGH and MLPA, are necessary when conventional testing for AS has failed to identify the underlying genetic mechanism.

scholarly journals Angelman Syndrome: An Autism Spectrum Disorder

2018 ◽  
Vol 6 (2) ◽  
pp. 56-60
Author(s):  
Andrew J. Kennedy ◽  
Jeffrey O. Henderson
Keyword(s):  
Angelman Syndrome ◽  
Motor Development ◽  
Neurodevelopmental Disorders ◽  
Muscle Tension ◽  
Autism Spectrum ◽  
Speech Impairment ◽  
Social Lives ◽  
Genetic Abnormalities ◽  
Ube3a Gene ◽  
Genetic Mechanisms

Neurodevelopmental disorders limit the mental, physical, and social lives of affected individuals and their families. These disorders are often related to genetic abnormalities having a distinct chromosomal location. The abnormalities can cause incorrect proteins to be formed or biochemical pathways to be blocked, predominately affecting brain development, but also having pleiotropic effects. Research into defining and correcting these genetic abnormalities is important to help distinguish between unique neurodevelopmental disorders so that proper clinical interventions are available for affected individuals. In the following review, Angelman syndrome, which results from UBE3A gene function being lost at maternal chromosome  15q11.2-q13, will be discussed. Angelman patients suffer from the defining characteristics of speech impairment, uncontrolled laughing and smiling, motor development issues, muscle tension, and possible ataxia. The genetic mechanisms of the disorder as well as possible therapies will be discussed, with future areas of research into genetic therapies to treat Angelman syndrome also put forth. Research into Angelman syndrome can provide an avenue for a clearer understanding of other neurodevelopmental disorders.

scholarly journals Novel Insights into the Role of UBE3A in Regulating Apoptosis and Proliferation

2020 ◽  
Vol 9 (5) ◽  
pp. 1573 ◽  
Author(s):  
Lilach Simchi ◽  
Julia Panov ◽  
Olla Morsy ◽  
Yonatan Feuermann ◽  
Hanoch Kaphzan
Keyword(s):  
Angelman Syndrome ◽  
Critical Role ◽  
Embryonic Fibroblasts ◽  
Ubiquitin E3 Ligase ◽  
Proliferation And Apoptosis ◽  
Ube3a Gene ◽  
Ubiquitin Binding ◽  
Molecular Effects ◽  
Substrate Proteins

The UBE3A gene codes for a protein with two known functions, a ubiquitin E3-ligase which catalyzes ubiquitin binding to substrate proteins and a steroid hormone receptor coactivator. UBE3A is most famous for its critical role in neuronal functioning. Lack of UBE3A protein expression leads to Angelman syndrome (AS), while its overexpression is associated with autism. In spite of extensive research, our understanding of UBE3A roles is still limited. We investigated the cellular and molecular effects of Ube3a deletion in mouse embryonic fibroblasts (MEFs) and Angelman syndrome (AS) mouse model hippocampi. Cell cultures of MEFs exhibited enhanced proliferation together with reduced apoptosis when Ube3a was deleted. These findings were supported by transcriptome and proteome analyses. Furthermore, transcriptome analyses revealed alterations in mitochondria-related genes. Moreover, an analysis of adult AS model mice hippocampi also found alterations in the expression of apoptosis- and proliferation-associated genes. Our findings emphasize the role UBE3A plays in regulating proliferation and apoptosis and sheds light into the possible effects UBE3A has on mitochondrial involvement in governing this balance.

scholarly journals Generation of a Novel Rat Model of Angelman Syndrome with a Complete Ube3a Gene Deletion

2020 ◽  
Vol 13 (3) ◽  
pp. 397-409 ◽  
Author(s):  
Andie Dodge ◽  
Melinda M. Peters ◽  
Hayden E. Greene ◽  
Clifton Dietrick ◽  
Robert Botelho ◽  
...  
Keyword(s):  
Rat Model ◽  
Angelman Syndrome ◽  
Gene Deletion ◽  
Ube3a Gene

Angelman syndrome associated with oculocutaneous albinism due to an intragenic deletion of theP gene

2003 ◽  
Vol 119A (2) ◽  
pp. 180-183 ◽  
Author(s):  
C. Fridman ◽  
N. Hosomi ◽  
M.C. Varela ◽  
A.H. Souza ◽  
K. Fukai ◽  
...  
Keyword(s):  
Angelman Syndrome ◽  
Oculocutaneous Albinism ◽  
Intragenic Deletion

Screening of UBE3A gene in patients referred for Angelman Syndrome

2013 ◽  
Vol 17 (4) ◽  
pp. 366-373 ◽  
Author(s):  
Evmorfia Tzagkaraki ◽  
Christalena Sofocleous ◽  
Fryssira-Kanioura Helen ◽  
Argyris Dinopoulos ◽  
Georgios Goulielmos ◽  
...  
Keyword(s):  
Angelman Syndrome ◽  
Ube3a Gene

Angelman Syndrome Due to a Novel Splicing Mutation of the UBE3A Gene

2008 ◽  
Vol 23 (8) ◽  
pp. 912-915 ◽  
Author(s):  
Stefano Sartori ◽  
Laura Anesi ◽  
Roberta Polli ◽  
Irene Toldo ◽  
Alberto Casarin ◽  
...  
Keyword(s):  
Angelman Syndrome ◽  
Splicing Mutation ◽  
Ube3a Gene

scholarly journals Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome: case report and review of the literature

2017 ◽  
Vol 18 (1) ◽  
Author(s):  
Cinthia Aguilera ◽  
Marina Viñas-Jornet ◽  
Neus Baena ◽  
Elisabeth Gabau ◽  
Concepción Fernández ◽  
...  
Keyword(s):  
Case Report ◽  
Angelman Syndrome ◽  
Review Of The Literature ◽  
Ube3a Gene ◽  
Intragenic Deletions
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