Prader‐Willi syndrome: intellectual abilities and behavioural features by genetic subtype

Milner, Katja M.; Craig, Ellen E.; Thompson, Richard M.; Veltman, Marijcke W. M.; Thomas, N. Simon; Roberts, S.E.; Bellamy, Margaret; Curran, Sarah; Sporikou, Caroline M.J.; Bolton, Patrick

doi:10.1111/j.1469-7610.2005.01520.x

Cited by 155 publications

(153 citation statements)

References 31 publications

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“…The higher number of Type 2 vs Type 1 is similar to the findings of other studies. [15][16][17] The prevalence of unique or atypical deletions was higher than what we expected and has not previously been reported for PWS, but was comparable to the prevalence rate (9.1%) found in AS. 7 The 15q11.2-q13 region is highly vulnerable to structural rearrangements, such as deletions, duplications, supernumerary marker chromosomes, and translocations due to presence of LCRs in the region.…”

Section: Discussioncontrasting

confidence: 38%

Unique and atypical deletions in Prader–Willi syndrome reveal distinct phenotypes

et al. 2011

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Prader-Willi syndrome (PWS) is a multisystem, contiguous gene disorder caused by an absence of paternally expressed genes within the 15q11.2-q13 region via one of the three main genetic mechanisms: deletion of the paternally inherited 15q11.2-q13 region, maternal uniparental disomy and imprinting defect. The deletion class is typically subdivided into Type 1 and Type 2 based on their proximal breakpoints (BP1-BP3 and BP2-BP3, respectively). Despite PWS being a well-characterized genetic disorder the role of the specific genes contributing to various aspects of the phenotype are not well understood. Methylationspecific multiplex ligation-dependent probe amplification (MS-MLPA) is a recently developed technique that detects copy number changes and aberrant DNA methylation. In this study, we initially applied MS-MLPA to elucidate the deletion subtypes of 88 subjects. In our cohort, 32 had a Type 1 and 49 had a Type 2 deletion. The remaining seven subjects had unique or atypical deletions that were either smaller (n¼5) or larger (n¼2) than typically described and were further characterized by array-based comparative genome hybridization. In two subjects both the PWS region (15q11.2) and the newly described 15q13.3 microdeletion syndrome region were deleted. The subjects with a unique or an atypical deletion revealed distinct phenotypic features. In conclusion, unique or atypical deletions were found in B8% of the deletion subjects with PWS in our cohort. These novel deletions provide further insight into the potential role of several of the genes within the 15q11.2 and the 15q13.3 regions.

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Section: Discussioncontrasting

confidence: 38%

Unique and atypical deletions in Prader–Willi syndrome reveal distinct phenotypes

et al. 2011

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“…31 More autistic-like impairment in social interaction has been found in PWS subjects with UPD compared to PWS subjects with a deletion of the paternal chromosome 15q11-13. 32 This emphasizes the possible relevance of maternally derived genes of the chromosome 15q11-13 region for development of AD. Several candidate genes in this region have been assessed, which will be presented and discussed in the genetic association studies section below.…”

Section: Cytogenetic Findings and Genetic Syndromes In Admentioning

confidence: 93%

The genetics of autistic disorders and its clinical relevance: a review of the literature

2006

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Twin and family studies in autistic disorders (AD) have elucidated a high heritability of the narrow and broad phenotype of AD. In this review on the genetics of AD, we will initially delineate the phenotype of AD and discuss aspects of differential diagnosis, which are particularly relevant with regard to the genetics of autism. Cytogenetic and molecular genetic studies will be presented in detail, and the possibly involved aetiopathological pathways will be described. Implications of the different genetic findings for genetic counselling will be mentioned.

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“…131,132 Two other studies found much less clinically significant differences between individuals with these two deletion types. 133,134 diAGnOstic testinG DNA methylation analysis is the most efficient way to start the genetic workup if PWS is suspected clinically (Figure 5 and Table 3). The differential DNA methylation of several imprinted maternal and paternal loci in the 15q11.2-q13 region provides a powerful tool for assessing paternal-only, maternalonly, and normal (biparental) inheritance.…”

Section: Paternal Deletionmentioning

confidence: 99%