Hostname: page-component-cd9895bd7-dzt6s Total loading time: 0 Render date: 2024-12-23T17:54:56.951Z Has data issue: false hasContentIssue false

Molecular and Clinical Studies of Polish Patients with Prader-Willi Syndrome

Published online by Cambridge University Press:  01 August 2014

A. Szpecht-Potocka*
Affiliation:
Department of Genetics, National Research Institute of Mother and Child, Warsaw, Poland
E. Obersztyn
Affiliation:
Department of Genetics, National Research Institute of Mother and Child, Warsaw, Poland
M. Karwacki
Affiliation:
Department of Genetics, National Research Institute of Mother and Child, Warsaw, Poland
E. Bocian
Affiliation:
Department of Genetics, National Research Institute of Mother and Child, Warsaw, Poland
J. Bal
Affiliation:
Department of Genetics, National Research Institute of Mother and Child, Warsaw, Poland
T. Mazurczak
Affiliation:
Department of Genetics, National Research Institute of Mother and Child, Warsaw, Poland
*
Department of Genetics, National Research Institute of Mother and Child, Kasprzaka 17A, PI 01 211 Warsaw, Poland

Abstract

Core share and HTML view are not available for this content. However, as you have access to this content, a full PDF is available via the ‘Save PDF’ action button.

A group of 30 patients clinically described as having the Prader-Willi Syndrome (PWS) were studied using microsatellites from 15q11-13 and methylation analysis with probe PW71B (D15S63). The patients were categorized according to clinical symptoms. 80% of all patients were informative using molecular and cytogenetic methods. Among 8 patients with an atypical PWS phenotype, 2 showed uniparental disomy, and 2 had a mosaic deletion for 15q. The last 4 atypical and 2 typical patients had neither molecular defects confirmed by microsatellite analysis nor a parent-of-origin-specific methylation pattern for PWS. Our results confirm that methylation pattern analysis provides an additional and alternative microsatellite analysis to diagnose PWS.

Type
Research Article
Copyright
Copyright © The International Society for Twin Studies 1996

References

REFERENCES

1. Nicholls, RD: New insights reveal complex mechanisms involved in genomic imprinting. Am J Hum Genet 1994; 54: 733740.Google Scholar
2. Holm, VA, Cassidy, SB, Butler, MG, Hanchen, JM, Greenswag, LR, Whitman, BY, Greenberg, F: Prader-Willi syndrome: Consensus diagnostic criteria. Pediatrics 1992; 91: 398402.Google Scholar
3. Litt, M, Luty, JA: A hypervariable microsatellite revealed by in vitro amplification of a dinucleotide repeat within the cardiac muscle actin gene. Am J Hum Genet 1989; 44: 397401.Google Scholar
4 Mutirangura, A, Greenberg, F, Butler, MG, Malcolm, S, Nicholls, RD, Chakravarti, A, Ledbetter, DH: Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): Molecular diagnosis and mechanism of uniparental disomy. Hum Mol Genet 1993; 2: 143151.Google Scholar
5. Dittrich, B, Buiting, K, Gross, S, Horsthemke, B: Characterization of a methylation imprint in the Prader-Willi syndrome chromosome region. Hum Mol Genet 1993; 2: 19951999.Google Scholar
6 Gillessen-Kaesbach, G, Gross, S, Kaya-Westerloh, S, Passarge, E, Horsthemke, B: DNA methylation based testing of 450 patients suspected of having Prader-Willi syndrome. J Med Genet 1995; 32: 8892.Google Scholar