A familial balanced inverted insertion ins(15)(q15q13q11.2) producing Prader-Willi syndrome, Angelman syndrome and duplication of 15q11.2-q13 in a single family: Importance of differentiation from a paracentric inversion

2004 ◽  
Vol 126A (1) ◽  
pp. 27-32 ◽  
Author(s):  
Morag N. Collinson ◽  
Si�n E. Roberts ◽  
John A. Crolla ◽  
Nicholas R. Dennis
Keyword(s):  
Angelman Syndrome ◽  
Paracentric Inversion ◽  
Prader Willi Syndrome ◽  
Single Family ◽  
Inverted Insertion

The Irregular Inheritance of Angelman Syndrome and Prader-Willi Syndrome

1992 ◽  
pp. 17-26
Author(s):  
Marcus E. Pembrey ◽  
J. Clayton-Smith ◽  
T. Webb ◽  
S. Malcolm
Keyword(s):  
Angelman Syndrome ◽  
Prader Willi Syndrome

scholarly journals Quantitative Analysis of SRNPN Gene Methylation by Pyrosequencing as a Diagnostic Test for Prader–Willi Syndrome and Angelman Syndrome

2006 ◽  
Vol 52 (6) ◽  
pp. 1005-1013 ◽  
Author(s):  
Helen E White ◽  
Victoria J Durston ◽  
John F Harvey ◽  
Nicholas CP Cross
Keyword(s):  
Diagnostic Test ◽  
Angelman Syndrome ◽  
Uniparental Disomy ◽  
Chromosome 15 ◽  
Prader Willi Syndrome ◽  
Maternal Uniparental Disomy ◽  
Cpg Sites ◽  
Specific Pcr ◽  
Small Nuclear Ribonucleoprotein ◽  
Maternal Contribution

Abstract Background: Angelman syndrome (AS) and Prader–Willi syndrome (PWS) are 2 distinct neurodevelopmental disorders caused primarily by deficiency of specific parental contributions at an imprinted domain within the chromosomal region 15q11.2-13. In most cases, lack of paternal contribution leads to PWS either by paternal deletion (∼70%) or maternal uniparental disomy (UPD; ∼30%). Most cases of AS result from the lack of a maternal contribution from this same region by maternal deletion (∼70%) or by paternal UPD (∼5%). Analysis of allelic methylation differences at the small nuclear ribonucleoprotein polypeptide N (SNRPN) locus can differentiate the maternally and paternally inherited chromosome 15 and can be used as a diagnostic test for AS and PWS. Methods: Sodium bisulfite–treated genomic DNA was PCR-amplified for the SNRPN gene. We used pyrosequencing to individually quantify the resulting artificial C/T sequence variation at CpG sites. Anonymized DNA samples from PWS patients (n = 40), AS patients (n = 31), and controls (n = 81) were analyzed in a blinded fashion with 2 PCR and 3 pyrosequencing reactions. We compared results from the pyrosequencing assays with those obtained with a commonly used methylation-specific PCR (MS-PCR) diagnostic protocol. Results: The pyrosequencing assays had a sensitivity and specificity of 100% and provided quantification of methylation at 12 CpG sites within the SNRPN locus. The resulting diagnoses were 100% concordant with those obtained from the MS-PCR protocol. Conclusions: Pyrosequencing is a rapid and robust method for quantitative methylation analysis of the SNRPN locus and can be used as a diagnostic test for PWS and AS.

scholarly journals Prader-Willi syndrome and Angelman syndrome: Visualisation of the molecular pathways for two chromosomal disorders

2018 ◽  
Vol 20 (9) ◽  
pp. 670-682 ◽  
Author(s):  
Friederike Ehrhart ◽  
Kelly J. M. Janssen ◽  
Susan L. Coort ◽  
Chris T. Evelo ◽  
Leopold M. G. Curfs
Keyword(s):  
Angelman Syndrome ◽  
Molecular Pathways ◽  
Prader Willi Syndrome ◽  
Chromosomal Disorders

scholarly journals Genetic testing for Prader-Willi syndrome and Angelman syndrome in the clinical practice of Guangdong Province, China

2019 ◽  
Vol 12 (1) ◽  
Author(s):  
Chang Liu ◽  
Xiangzhong Zhang ◽  
Jicheng Wang ◽  
Yan Zhang ◽  
Anshi Wang ◽  
...  
Keyword(s):  
Clinical Practice ◽  
Genetic Testing ◽  
Angelman Syndrome ◽  
Guangdong Province ◽  
Prader Willi Syndrome
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