A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect

Gillessen‐Kaesbach, Gabriele; Demuth, Stephanie; Thiele, Hannelore; Theile, Ursel; Lich, Christina; Horsthemke, Bernhard

doi:10.1038/sj.ejhg.5200362

Cited by 75 publications

(70 citation statements)

References 15 publications

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“…Therefore, it is possible for some abnormal HECT-type E3s to cause muscular dystrophies. Actually, it has been reported that E6AP, another HECT-type E3, contributes to a severe neurological disorder, Angelman syndrome [24,25] which exhibits muscular hypotonia [26].…”

Section: Discussionmentioning

confidence: 99%

The ubiquitin ligase gene (WWP1) is responsible for the chicken muscular dystrophy

et al. 2008

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Chicken muscular dystrophy with abnormal muscle (AM) has been studied for more than 50 years, but the gene responsible for it remains unclear. Our previous studies narrowed down the AM candidate region to approximately 1 Mbp of chicken chromosome 2q containing seven genes. In this study, we performed sequence comparison and gene expression analysis to elucidate the responsible gene. One missense mutation was detected in AM candidate genes, while no remarkable alteration of expression patterns was observed. The mutation was identified in WWP1, detected only in dystrophic chickens within several tetrapods. These results suggested WWP1 is responsible for chicken muscular dystrophy.

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Section: Discussionmentioning

confidence: 99%

The ubiquitin ligase gene (WWP1) is responsible for the chicken muscular dystrophy

et al. 2008

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“…Gillessen-Kaesbach et al 41 described the clinical phenotype in seven AS patients who presented initially with features of the Prader-Willi syndrome but were subsequently shown to have a chromosome 15 methylation pattern in keeping with AS. These patients presented with hypotonia, obesity, and a milder degree of mental retardation.…”

Section: Genetic Counsellingmentioning

confidence: 99%

Angelman syndrome: a review of clinical and genetic aspects

Laan

Haeringen

Brouwer

1999

Clinical Neurology and Neurosurgery

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“…4 There are a small number of reported cases of patients with clinical features of PWS but a molecular diagnosis of AS. [5][6][7] In the majority of these cases partial loss of maternal methylation is observed.…”

Section: Introductionmentioning

confidence: 99%

An atypical case of hypomethylation at multiple imprinted loci

et al. 2011

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Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are caused by genetic and epigenetic mutations of the imprinted gene cluster on chromosome 15q13. Although the imprinting mutations causing PWS and AS are essentially opposite in nature, remarkably, a small number of patients have been reported with clinical features of PWS but epigenetic mutations consistent with AS. We report here a patient who presented with clinical features partially consistent with both PWS and Beckwith-Wiedemann syndrome (BWS). Epimutations were found at both the AS/PWS and BWS loci, and additionally at the H19, PEG3, NESPAS and GNAS loci. This patient is therefore the first described case with a primary epimutation consistent with AS accompanied by hypomethylation of other imprinted loci.

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A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect

Cited by 75 publications

References 15 publications

The ubiquitin ligase gene (WWP1) is responsible for the chicken muscular dystrophy

The ubiquitin ligase gene (WWP1) is responsible for the chicken muscular dystrophy

Angelman syndrome: a review of clinical and genetic aspects

An atypical case of hypomethylation at multiple imprinted loci

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