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

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.

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

African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism

1994 ◽  
Vol 7 (2) ◽  
pp. 176-179 ◽  
Author(s):  
D. Durham-Pierre ◽  
J. M. Gardner ◽  
Y. Nakatsu ◽  
R. A. King ◽  
U. Francke ◽  
...  
Keyword(s):  
Oculocutaneous Albinism ◽  
African Origin ◽  
P Gene ◽  
Intragenic Deletion

AAC Considerations for Individuals With Angelman Syndrome

2015 ◽  
Vol 24 (3) ◽  
pp. 106-113 ◽  
Author(s):  
Stephen N. Calculator
Keyword(s):  
Angelman Syndrome ◽  
Augmentative And Alternative Communication ◽  
High Tech ◽  
Alternative Communication ◽  
Design And Implementation

Purpose To provide an overview of communication characteristics exhibited by individuals with Angelman Syndrome (AS) and special considerations associated with the design and implementation of augmentative and alternative communication (AAC) programs. Method Results of recent studies exploring individuals' uses of AAC are reviewed, with particular emphasis on factors related to individuals' acceptance and successful uses of AAC systems. Results Not applicable Conclusion Despite their inconsistent access to practices previously found to foster individuals' acceptance of AAC systems, individuals with AS demonstrate the ability to use AAC systems, including high-tech AAC devices, successfully.

Behavioral Intervention to Reduce Sleep Problems in Children With Angelman Syndrome

2013 ◽  
Author(s):  
Keith D. Allen ◽  
Brett R. Kuhn ◽  
Kristi Dehaai ◽  
Dustin P. Wallace
Keyword(s):  
Behavioral Intervention ◽  
Angelman Syndrome ◽  
Sleep Problems

Oculocutaneous albinism

2011 ◽  
Vol 42 (S 01) ◽  
Author(s):  
KA Koch ◽  
CB Bussmann
Keyword(s):  
Oculocutaneous Albinism
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