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[Prader Willi syndrome patients: study of 77 patients]
David Poyatos1, Cristina Camprubí, Elisabeth Gabau
1Unitat de Biologia Cellular, Facultat de Biociències, Universitat Autònoma de Barcelona, Barcelona, España. dpoyatos@yahoo.es
Insights
Prader-Willi syndrome (PWS) is a genetic disorder caused by paternal gene defects. This study confirms PWS in 77 patients, finding deletion and uniparental disomy as common causes, similar to existing literature.
Area of Science:
- Genetics
- Molecular Biology
- Pediatrics
Context:
- Prader-Willi syndrome (PWS) is a complex genetic disorder.
- It results from the loss or inactivation of paternal genes in the 15q11-q13 region.
- Key genetic causes include paternal deletion (70%), maternal uniparental disomy (20-25%), and imprinting defects (<5%).
Purpose:
- To conduct a clinical-genetic study of 77 Prader-Willi syndrome patients.
- To analyze the frequency of different genetic alterations causing PWS.
- To evaluate the correlation between phenotype and genotype.
Summary:
- PWS was confirmed in 77 individuals through cytogenetic and molecular analyses.
- The study identified 46 deletions, 16 cases of uniparental disomy, 2 imprinting defects, and 13 with only a PWS methylation pattern.
- No significant differences were observed in the phenotype-genotype correlation.
Impact:
- The molecular alteration frequencies align with established literature.
- The study validates MS-PCR as a rapid diagnostic technology for PWS.
- This research contributes to understanding PWS genetic underpinnings and diagnostic approaches.
Background:
The Prader-Willi syndrome (PWS) is a disease of genetic origin. It is characterized by neonatal hypotonia, hypogonadism, hiperfagia leading to obesity, low stature, developmental delay, moderate mental retardation, abnormal behavior and characteristic facial appearance. It is caused by the loss or the inactivation of paternal genes of the imprinted region 15q11-13. There are different genetic causes: paternal 15q11-q13 deletion in 70% of patients, maternal uniparental disomy in the 20-25% and less than 5% have an imprinting defect. We present the results obtained in the transverse clinical - genetic study of 77 PWS patients.
Patients And Methods:
There has been realized the study of 374 suspected PWS patients. Cytogenetics studies of bands G and hybridization in situ fluorescent (FISH) and molecular genetics analysis of microsatellites, Southern blot, MS-PCR and sequenciation were carried out. Holm's criteria use for the correlation phenotype - genotype in 48 patients.
Results:
PWS was confirmed in 77 patients, 46 deletion, 16 uniparental disomy, two imprinting defect and 13 only PWS methylation pattern. Significant differences do not observe in the correlation phenotype - genotype.
Conclusions:
The frequencies of the molecular alterations, 71.87 % deletion, 25 % UPD and 3.12 % DI, they are similar to described in the literature. It presents the algorithm of diagnosis used with the MS-PCR as rapid technology to confirm PWS.
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