scholarly journals Three siblings with Prader-Willi syndrome caused by imprinting center microdeletions and review

2018 ◽  
Vol 176 (4) ◽  
pp. 886-895 ◽  
Author(s):  
Samantha N. Hartin ◽  
Waheeda A. Hossain ◽  
Nicolette Weisensel ◽  
Merlin G. Butler
Keyword(s):  
Prader Willi Syndrome ◽  
Imprinting Center

scholarly journals An Unexpected Function of the Prader-Willi Syndrome Imprinting Center in Maternal Imprinting in Mice

PLoS ONE ◽  
2012 ◽  
Vol 7 (4) ◽  
pp. e34348 ◽  
Author(s):  
Mei-Yi Wu ◽  
Ming Jiang ◽  
Xiaodong Zhai ◽  
Arthur L. Beaudet ◽  
Ray-Chang Wu
Keyword(s):  
Prader Willi Syndrome ◽  
Imprinting Center ◽  
Maternal Imprinting

scholarly journals Influence of the Prader-Willi syndrome imprinting center on the DNA methylation landscape in the mouse brain

Epigenetics ◽  
2014 ◽  
Vol 9 (11) ◽  
pp. 1540-1556 ◽  
Author(s):  
Jason O Brant ◽  
Alberto Riva ◽  
James L Resnick ◽  
Thomas P Yang
Keyword(s):  
Dna Methylation ◽  
Mouse Brain ◽  
Prader Willi Syndrome ◽  
Imprinting Center

scholarly journals Role of Histone Methyltransferase G9a in CpG Methylation of the Prader-Willi Syndrome Imprinting Center

2003 ◽  
Vol 278 (17) ◽  
pp. 14996-15000 ◽  
Author(s):  
Zhenghan Xin ◽  
Makoto Tachibana ◽  
Michele Guggiari ◽  
Edith Heard ◽  
Yoichi Shinkai ◽  
...  
Keyword(s):  
Histone Methyltransferase ◽  
Cpg Methylation ◽  
Prader Willi Syndrome ◽  
Imprinting Center

scholarly journals A new deletion refines the boundaries of the murine Prader-Willi syndrome imprinting center

2011 ◽  
Vol 20 (17) ◽  
pp. 3461-3466 ◽  
Author(s):  
A. J. DuBose ◽  
E. Y. Smith ◽  
T. P. Yang ◽  
K. A. Johnstone ◽  
J. L. Resnick
Keyword(s):  
Prader Willi Syndrome ◽  
Imprinting Center

scholarly journals Angelman syndrome imprinting center encodes a transcriptional promoter

2014 ◽  
Vol 112 (22) ◽  
pp. 6871-6875 ◽  
Author(s):  
Michael W. Lewis ◽  
Jason O. Brant ◽  
Joseph M. Kramer ◽  
James I. Moss ◽  
Thomas P. Yang ◽  
...  
Keyword(s):  
Dna Sequences ◽  
Angelman Syndrome ◽  
Paternal Allele ◽  
Specific Gene ◽  
Prader Willi Syndrome ◽  
Maternal Allele ◽  
Expression Of Genes ◽  
Imprinting Center ◽  
Maternal Contribution ◽  
Parent Of Origin

Clusters of imprinted genes are often controlled by an imprinting center that is necessary for allele-specific gene expression and to reprogram parent-of-origin information between generations. An imprinted domain at 15q11–q13 is responsible for both Angelman syndrome (AS) and Prader–Willi syndrome (PWS), two clinically distinct neurodevelopmental disorders. Angelman syndrome arises from the lack of maternal contribution from the locus, whereas Prader–Willi syndrome results from the absence of paternally expressed genes. In some rare cases of PWS and AS, small deletions may lead to incorrect parent-of-origin allele identity. DNA sequences common to these deletions define a bipartite imprinting center for the AS–PWS locus. The PWS–smallest region of deletion overlap (SRO) element of the imprinting center activates expression of genes from the paternal allele. The AS–SRO element generates maternal allele identity by epigenetically inactivating the PWS–SRO in oocytes so that paternal genes are silenced on the future maternal allele. Here we have investigated functional activities of the AS–SRO, the element necessary for maternal allele identity. We find that, in humans, the AS–SRO is an oocyte-specific promoter that generates transcripts that transit the PWS–SRO. Similar upstream promoters were detected in bovine oocytes. This result is consistent with a model in which imprinting centers become DNA methylated and acquire maternal allele identity in oocytes in response to transiting transcription.

scholarly journals Analysis of the Prader–Willi syndrome imprinting center using droplet digital PCR and next‐generation whole‐exome sequencing

2019 ◽  
Vol 7 (4) ◽  
pp. e00575 ◽  
Author(s):  
Samantha N. Hartin ◽  
Waheeda A. Hossain ◽  
David Francis ◽  
David E. Godler ◽  
Sangjucta Barkataki ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Digital Pcr ◽  
Droplet Digital Pcr ◽  
Prader Willi Syndrome ◽  
Next Generation ◽  
Imprinting Center ◽  
Whole Exome

scholarly journals Whole genome microarray analysis of gene expression in an imprinting center deletion mouse model of Prader–Willi syndrome

2007 ◽  
Vol 143A (5) ◽  
pp. 422-429 ◽  
Author(s):  
Douglas C. Bittel ◽  
Nataliya Kibiryeva ◽  
Steven G. McNulty ◽  
Daniel J. Driscoll ◽  
Merlin G. Butler ◽  
...  
Keyword(s):  
Gene Expression ◽  
Mouse Model ◽  
Microarray Analysis ◽  
Prader Willi Syndrome ◽  
Whole Genome ◽  
Imprinting Center ◽  
Whole Genome Microarray

scholarly journals Transmission of a Novel Imprinting Center Deletion Associated With Prader–Willi Syndrome Through Three Generations of a Chinese Family: Case Presentation, Differential Diagnosis, and a Lesson Worth Thinking About

2021 ◽  
Vol 12 ◽  
Author(s):  
Kaihui Zhang ◽  
Shu Liu ◽  
Wenjun Gu ◽  
Yuqiang Lv ◽  
Haihua Yu ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Clinical Features ◽  
Preimplantation Embryos ◽  
Paternal Allele ◽  
Chinese Family ◽  
Prader Willi Syndrome ◽  
Genetic Syndrome ◽  
Small Nuclear Ribonucleoprotein ◽  
Imprinting Center ◽  
Hands And Feet

Prader–Willi syndrome (PWS) is a complex genetic syndrome caused by the loss of function of genes in 15q11-q13 that are subject to regulation by genomic imprinting and expressed from the paternal allele only. The main clinical features of PWS patients are hypotonia during the neonatal and infantile stages, accompanied by delayed neuropsychomotor development, hyperphagia, obesity, hypogonadism, short stature, small hands and feet, mental disabilities, and behavioral problems. However, PWS has a clinical overlap with other disorders, especially those with other gene variations or chromosomal imbalances but sharing part of the similar clinical manifestations with PWS, which are sometimes referred to as Prader–Willi syndrome-like (PWS-like) disorders. Furthermore, it is worth mentioning that significant obesity as a consequence of hyperphagia in PWS usually develops between the ages of 1 and 6 years, which makes early diagnosis difficult. Thus, PWS is often not clinically recognized in infants and, on the other hand, may be wrongly suspected in obese and intellectually disabled patients. Therefore, an accurate investigation is necessary to differentiate classical PWS from PWS-like phenotypes, which is imperative for further treatment. For PWS, it is usually sporadic, and very rare family history and affected siblings have been described. Here, we report the clinical and molecular findings in a three-generation family with a novel 550-kb microdeletion affecting the chromosome 15 imprinting center (IC). Overall, the present study finds that the symptoms of our patient are somewhat different from those of typical PWS cases diagnosed and given treatment in our hospital. The familial occurrence and clinical features were challenging to our diagnostic strategy. The microdeletion included a region within the complex small nuclear ribonucleoprotein polypeptide protein N (SNRPN) gene locus encompassing the PWS IC and was identified by using a variety of techniques. Haplotype studies suggest that the IC microdeletion was vertically transmitted from an unaffected paternal grandmother to an unaffected father and then caused PWS in two sibling grandchildren when the IC microdeletion was inherited paternally. Based on the results of our study, preimplantation genetic diagnosis (PGD) was applied successfully to exclude imprinting deficiency in preimplantation embryos before transfer into the mother’s uterus. Our study may be especially instructive regarding accurate diagnosis, differential diagnosis, genetic counseling, and PGD for familial PWS patients.

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