Angelman syndrome

Brilliant, M. H. (1992). The mouse pink-eyed dilution locus—a model for aspects of Prader-Willi-syndrome, Angelman syndrome, and a form of hypomelanosis of Ito. Mamm. Genome 3 187-191. 

DeLorey, T. M., and Olsen, R. W. (1999) GABA and epileptogenesis comparing gabrb3 gene-deficient mice with Angelman syndrome in man. Epilepsy Res. 36, 123-132. 

Local chromatin-modifying activities Acetylation of histones increases gene expression (many genes) Methylation of DNA silences genes in genetic imprinting (Prader-Willi and Angelman syndromes)... 

The Inheritance of a deletion on chromosome IS from a male produces Prader-Willi syndrome, whereas inheritance of the same deletion from a female produces Angelman syndrome. 

Other important diseases caused by deletions include Williams syndrome, Wolf-Hirschhorn syndrome, DiCeorge syndrome, Wilms tumor, and the Prader-Willi and Angelman syndromes (see Chapter )) ... 

The imprinted region of chromosome 15 contains about 8 genes, one of which is responsible, when broken, for Angelman syndrome—a gene called UBE3A. Beside this gene are the two top candidates for the Prader-Willi syndrome when broken one called the SNRPN gene and the other called IPW. 

Angelman syndrome occurs when chromosome 15 with the deletion is materna lly inherited. 

Angelman syndrome is a devastating neurologic disorder featuring severe mental retardation, a "happy puppet" demeanor, seizures, ataxic gait, and aphasia. 

Cassidy, S.B. and Schwartz, S. (1998) Prader-Willi and Angelman syndromes disorders of genomic imprinting. Medicine 77 140-151. 

Vigabatrin can exacerbate myoclonic and absence seizures and occasionally other seizure types, especially in children with generalized epilepsies. After the administration of vigabatrin, seizures worsened in all of four children with Angelman syndrome (10), and generalized seizures occurred for the first time in a boy with succinic semialdehyde dehydrogenase deficiency (SEDA-21, 77). De novo myoclonic jerks and precipitation of status epi-lepticus have also been reported (SEDA-20, 70). 

Kuenzle C, Steinhn M, Wohlrab G, Boltshauser E, Schmitt B. Adverse effects of vigabatrin in Angelman syndrome. Epilepsia 1998 39(11) 1213-15. 

TABLE 40-2 Molecular Mechanisms and Tests for Prader-Willi and Angelman Syndromes ... 

Molecular Mechanism Angelman Syndrome (Frequency) Prader-Willi Syndrome (Frequency) Methylation-Specific PCR Result Possible Detection Methods... 

GimeUi G, Pujana MA, PatriceUi MG, Russo S, Giardino D, Larizza L, et al. Genomic inversions of human chromosome 15qll-ql3 in mothers of Angelman syndrome patients with class II (BP2/3) deletions. Hum Molec Genet 2003 12 849-58-... 

Kondo I, Saitoh S, et al. A novel maternally expressed gene, ATPIOC, encodes a putative aminophospho-hpid translocase associated with Angelman syndrome. Nature Genet 2001 28 19-20. 

Monaghan KG, Wiktor A, Van Dyke DL. Diagnostic testing for Prader-Willi syndrome and Angelman syndrome a cost comparison. Genet in Med 2002 4 448-50. 

Nicholls RD, Saitoh S, Horsthemke B. Imprintmg in Prader-Wilh and Angelman syndromes. Trends in Genet 1998 14 194-200. 

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