Beckwith–Wiedemann syndrome

Choufani, Sanaa; Shuman, Cheryl; Weksberg, Rosanna

doi:10.1002/ajmg.c.30267

Cited by 294 publications

(308 citation statements)

References 109 publications

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“…In the majority of cases, the hypomethylation is present in a mosaic state with a highly variable degree of methylation and occurs sporadically as a postzygotic event. 3,4 Other molecular causes of BWS include hypermethylation of the ICR1 (~5-10%), paternal uniparental disomy of chromosome 11p15 (~20-25%), paternal duplications (~1-2%) and point mutations in CDKN1C (~5%). 2,5 So far, only a few familial BWS cases caused by deletions or duplications affecting the centromeric imprinted region on 11p15.5 have been described in the literature (reviewed in Begemann et al, 6 Baskin et al 7 and Gurrieri et al 8 ).…”

Section: Introductionmentioning

confidence: 99%

A maternal deletion upstream of the imprint control region 2 in 11p15 causes loss of methylation and familial Beckwith–Wiedemann syndrome

et al. 2016

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Section: Introductionmentioning

confidence: 99%

A maternal deletion upstream of the imprint control region 2 in 11p15 causes loss of methylation and familial Beckwith–Wiedemann syndrome

et al. 2016

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“…10 Mosaic genome-wide patUPD carriers show a broad phenotypic range but in all patients Beckwith-Wiedemann syndrome (BWS) and/ or Wilms tumour (WT) were the initial clinical diagnoses (Table 1). In both BWS and WT, (epi)genetic alterations within 11p15.5 can be detected, including paternal UPD 11p15 (upd(11p15)pat)(for review, refer Choufani et al 11 ). BWS was initially called EMG syndrome from its three main features exomphalos, macroglossia and (neonatal) gigantism.…”

Section: Introductionmentioning

confidence: 99%

Genome-wide paternal uniparental disomy mosaicism in a woman with Beckwith–Wiedemann syndrome and ovarian steroid cell tumour

et al. 2012

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“…Approximately 85% of reported BWS cases are sporadic, while the remaining 15% are familial. BWS is caused by epigenetic or genomic alterations that disrupt genes in one or both of the two imprinted domains on chromosome 11p15.5 (11). Genetic alterations of H19 and LIT1 distinguish patients with BWS from those with cancer and birth defects.…”

Section: Beckwith-wiedemann Syndromementioning

confidence: 99%

Association between long non-coding RNA and human rare diseases (Review)

Han

2013

Biomedical Reports

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Abstract. Long non-coding RNAs (lncRNAs) are untranslated transcripts with longer than 200 nucleotides (nt), which possess many of the structural characteristics of mRNAs, including a poly A tail, 5'-capping, and a promoter structure, but no conserved open reading frame. Moreover, lncRNA expression patterns change during differentiation and exhibit a variety of splicing patterns. Many lncRNAs are expressed at specific times and in specific tissues during development. It has been proposed that lncRNAs are involved in the epigenetic regulation of coding genes, and thus exert a powerful effect on a number of physiological and pathological processes, including the pathogenesis of many human rare diseases. Contents IntroductionAt present, five classes of long non-coding RNAs (lncRNAs) are known: anti-sense lncRNAs, intronic non-coding RNAs, large intergenic non-coding RNAs (lincRNAs), promoter-associated lncRNAs, and untranslated region (UTR)-associated lncRNAs (1). These lncRNAs are involved in a variety of vital regulation processes, including X-chromosome inactivation, genomic imprinting, chromatin modification, transcriptional activation, transcriptional interference, and nuclear transport, suggesting a possible involvement in diseases (2). lncRNAs are aberrantly expressed in several complex disorders and appear to be directly linked to the incidence of some diseases (3). This review summarizes the potential association between lncRNAs and human rare diseases. The association between long non-coding RNA and human rare diseasesIn differentiation and development processes, the dysfunction of non-coding RNA often leads to disease. Abnormality of lncRNA might affect DNA methylation, histone modification, and chromatin remodeling in various ways. Moreover, as a precursor of microRNA, lncRNAs play an important role in the initiation and progression of disease. Recent studies (4,5,6,7) have found that C15orf2, H19, Ube3a-as, and DGCR5 are associated with rare diseases (Table I). Prader-Willi syndromePrader-Willi syndrome (PWS) is a neurogenetic disorder that results from loss of the paternal contribution of a 1.5-Mb imprinted region on the proximal long arm of chromosome 15. PWS is characterized by neonatal muscular hypotonia and failure to thrive, hyperphagia and obesity starting in early childhood, as well as hypogonadism, short stature, small hands and feet, sleep apnea, behavioral problems and mild to moderate mental retardation (8). C15orf2 is a testis-specific gene that maps between NDN and SNURF-SNRPN and is expressed by the two alleles. The novel genes Prader-Willi region non-protein-coding RNA 1 and 2 are located between NDN and C15orf2. PWRN2 is expressed only in testis and is biallelic (4). PWRN1 is biallelically expressed in testis and kidney. Investigation of C15orf2 revealed that this gene is also expressed in the fetal brain but is monoallelic. Therefore,

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Beckwith–Wiedemann syndrome

Cited by 294 publications

References 109 publications

A maternal deletion upstream of the imprint control region 2 in 11p15 causes loss of methylation and familial Beckwith–Wiedemann syndrome

A maternal deletion upstream of the imprint control region 2 in 11p15 causes loss of methylation and familial Beckwith–Wiedemann syndrome

Genome-wide paternal uniparental disomy mosaicism in a woman with Beckwith–Wiedemann syndrome and ovarian steroid cell tumour

Association between long non-coding RNA and human rare diseases (Review)

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