Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes
نویسندگان
چکیده
منابع مشابه
Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes.
Angelman syndrome (AS) is a severe genetic disorder caused by mutations or deletions of the maternally inherited UBE3A gene. UBE3A encodes an E3 ubiquitin ligase that is expressed biallelically in most tissues but is maternally expressed in almost all neurons. In this review, we describe recent advances in understanding the expression and function of UBE3A in the brain and the etiology of AS. W...
متن کاملAngelman syndrome, a genomic imprinting disorder of the brain.
Introduction Harry Angelman, an English pediatrician, reported three cases of “Puppet Children” in 1965 (Angelman, 1965). These individuals displayed severe intellectual disability, ataxia, absent speech, jerky arm movements and bouts of inappropriate laughter. More cases were described as “Happy Puppet” syndrome (Bower and Jeavons, 1967), and additional consensus diagnostic criteria for what i...
متن کاملAngelman syndrome: mimicking conditions and phenotypes.
The diagnosis of Angelman syndrome (AS) can be confirmed by genetic laboratory in about 80% of cases. In 20%, the diagnosis remains clinical, but often there is uncertainty about the correctness of the clinical diagnosis and alternative diagnoses may be investigated. In evaluating individuals for AS in our center since 1989, we have encountered several mimicking conditions, and additional ones ...
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BACKGROUND Kinship theory (or the genomic conflict hypothesis) proposes that the phenotypic effects of genomic imprinting arise from conflict between paternally and maternally inherited alleles. A prediction arising for social behaviour from this theory is that imbalance in this conflict resulting from a deletion of a maternally imprinted gene, as in Angelman syndrome (AS), will result in a beh...
متن کاملLinkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndrome.
Angelman syndrome (AS) and Prader-Willi syndrome (PWS) have become the classical examples of genomic imprinting in man, as completely different phenotypes are generated by the absence of maternal (AS) or paternal (PWS) contributions to the q11-13 region of chromosome 15 as a result of deletion or uniparental disomy. Apparently, most patients are sporadic cases. The genetic mechanism underlying ...
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ژورنال
عنوان ژورنال: Trends in Neurosciences
سال: 2011
ISSN: 0166-2236
DOI: 10.1016/j.tins.2011.04.001