Impact of molecular mechanisms, including deletion size, on Prader–Willi syndrome phenotype: study of 75 patients
- 22 December 2004
- journal article
- Published by Wiley in Clinical Genetics
- Vol. 67 (1), 47-52
- https://doi.org/10.1111/j.1399-0004.2005.00377.x
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.Keywords
This publication has 27 references indexed in Scilit:
- Prader-Willi syndrome with an unusually large 15q deletion due to an unbalanced translocation t(4;15)Annales de Genetique, 2004
- Molecular and Fluorescence In Situ Hybridization Characterization of the Breakpoints in 46 Large Supernumerary Marker 15 Chromosomes Reveals an Unexpected Level of ComplexityAmerican Journal of Human Genetics, 2003
- Identification of Four Highly Conserved Genes between Breakpoint Hotspots BP1 and BP2 of the Prader-Willi/Angelman Syndromes Deletion Region That Have Undergone Evolutionary Transposition Mediated by Flanking DupliconsAmerican Journal of Human Genetics, 2003
- NIPA1 Gene Mutations Cause Autosomal Dominant Hereditary Spastic Paraplegia (SPG6)American Journal of Human Genetics, 2003
- Characterisation of interstitial duplications and triplications of chromosome 15q11–q13Human Genetics, 2002
- Prader-Willi Syndrome: Genetic Tests and Clinical FindingsGenetic Testing, 2000
- Chromosome Breakage in the Prader-Willi and Angelman Syndromes Involves Recombination between Large, Transcribed Repeats at Proximal and Distal BreakpointsAmerican Journal of Human Genetics, 1999
- Imprinting-Mutation Mechanisms in Prader-Willi SyndromeAmerican Journal of Human Genetics, 1999
- Delayed diagnosis in patients with Prader‐Willi syndrome due to maternal uniparental disomy 15American Journal of Medical Genetics, 1997
- A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11–q13) and refined localization of the SNRPN geneGenomics, 1993