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

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

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