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Cited by 117Genetic Syndromes and ImprintingGenomic variations and chromosomal abnormalitiesWilliams Syndrome Research

Impact of molecular mechanisms, including deletion size, on Prader-Willi syndrome phenotype: Study of 75 patients

Varela, MC, Kok, F, Setian, N, Kim, CA, Koiffmann, CP·2005·Clinical Genetics
DOI 10.1111/j.1399-0004.2005.00377.x
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Abstract

Prader-Willi syndrome (PWS) can result from a 15q11-q13 paternal deletion, maternal uniparental disomy (UPD), or imprinting mutations. We describe here the phenotypic variability detected in 51 patients with different types of deletions and 24 patients with UPD. Although no statistically significant differences could be demonstrated between the two main types of PWS deletion patients, it was observed that type I (BP1-BP3) patients acquired speech later than type II (BP2-BP3) patients. Comparing the clinical pictures of our patients with UPD with those with deletions, we found that UPD children presented with lower birth length and started walking earlier and deletion patients presented with a much higher incidence of seizures than UPD patients. In addition, the mean maternal age in the UPD group was higher than in the deletion group. No statistically significant differences could be demonstrated between the deletion and the UPD group with respect to any of the major features of PWS. In conclusion, our study did not detect significant phenotypic differences among type I and type II PWS deletion patients, but it did demonstrate that seizures were six times more common in patients with a deletion than in those with UPD.

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Crossref · 10.1111/j.1399-0004.2005.00377.x

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  • Individuals with PWS having 15q11-q13 type I deletions acquired speech later than those with type II deletions.

    “Varela et al. [10] found that individuals with PWS having 15q11–q13 type I deletions acquired speech later than those with type II deletions.”

    From The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review (2015) · cites this paper as [10]

  • Individuals with the larger typical 15q11-q13 type I deletion in Prader-Willi and Angelman syndromes have more severe neurodevelopmental symptoms than those with the smaller typical type II deletion.

    “Several studies have shown that individuals with the larger typical 15q11–q13 type I deletion which is found in both Prader-Willi and Angelman syndromes are reported to have more severe neurodevelopmental symptoms as compared to those individuals with the smaller typical type II deletion [5,6,7,8,9,10].”

    From The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review (2015) · cites this paper as [10]

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Authors
Varela, M., Kok, F., Setian, N., Kim, C., & Koiffmann, C.
Affiliations
Universidade de São Paulo (BR)
ORCID
Kok, F
Venue
Clinical Genetics
Publisher
Wiley
Published
2004-12-22
Volume
67
Issue
1
Pages
47-52
ISSN
  • 0009-9163 (ISSN-L)
  • 1399-0004
DOI
10.1111/j.1399-0004.2005.00377.x
OpenAlex
W1578646984
Cited by
117
References
28
Citations by year
2026: 1 · 2025: 3 · 2024: 3 · 2023: 2 · 2022: 8 · 2021: 4 · 2020: 5 · 2019: 5 · 2018: 3 · 2017: 6 · 2016: 6 · 2015: 5 · 2014: 6 · 2013: 7 · 2012: 6
FWCI
3.03
Type
journal article
Language
en
Open access
closed
Licence
onlinelibrary.wiley.com/termsAndConditions#vor (vor)
Locations
  • Clinical Genetics (publishedVersion)
  • PubMed (publishedVersion)
Funders
Fundação de Amparo à Pesquisa do Estado de São Paulo
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Syndromes and Imprinting
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
  • Life Sciences › Neuroscience › Developmental Neuroscience › Williams Syndrome Research
Keywords
Prader-Willi syndrome, uniparental disomy, genomic imprinting, phenotypic variability, deletion size, speech development, seizures, birth length, walking age, maternal age
MeSH terms
Adolescent, Adult, Child, Child, Preschool, Chromosome Mapping, Female, Humans, Infant, Infant, Newborn, Karyotyping, Language Development Disorders, Male, Maternal Age, Phenotype, Prader-Willi Syndrome, Seizures, Sequence Deletion, Uniparental Disomy, Inheritance Patterns

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