Imprinting center analysis in Prader–Willi and Angelman syndrome patients with typical and atypical phenotypes

Abstract Prader–Willi syndrome (PWS) and Angelman syndrome (AS) are genetic disorders caused by a deficiency of imprinted gene expression from the paternal or maternal chromosome 15, respectively. This deficiency is due to the deletion of the 15q11-q13 region, parental uniparental disomy of the chro...

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Bibliographic Details
Published in:European journal of medical genetics 2007-01, Vol.50 (1), p.11-20
Main Authors: Camprubí, Cristina, Coll, Maria Dolors, Villatoro, Sergi, Gabau, Elisabeth, Kamli, Amine, Martínez, Maria Jesus, Poyatos, David, Guitart, Miriam
Format: Article
Language:English
Subjects:
Adult
Angelman Syndrome - genetics
Angelman Syndrome - pathology
Biological and medical sciences
Blotting, Southern
Child
Child, Preschool
Classical genetics, quantitative genetics, hybrids
DNA Methylation
Female
Fundamental and applied biological sciences. Psychology
General aspects. Genetic counseling
Genetics of eukaryotes. Biological and molecular evolution
Genomic Imprinting
Human
Humans
Imprinting defect
Male
Medical Education
Medical genetics
Medical sciences
Metabolic diseases
Methylation pattern
Molecular and cellular biology
Mosaicism
Obesity
Phenotype
Polymerase Chain Reaction
Prader-Willi Syndrome - genetics
Prader-Willi Syndrome - pathology
Real-time PCR
Southern blot
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Summary:Abstract Prader–Willi syndrome (PWS) and Angelman syndrome (AS) are genetic disorders caused by a deficiency of imprinted gene expression from the paternal or maternal chromosome 15, respectively. This deficiency is due to the deletion of the 15q11-q13 region, parental uniparental disomy of the chromosome 15, or imprinting defect (ID). Mutation of the UBE3A gene causes approximately 10% of AS cases. In this present study, we describe the molecular analysis and phenotypes of two PWS patients and four AS patients with ID. One of the PWS patients has a non-familial imprinting center (IC) deletion and displayed a severe phenotype with an atypical PWS appearance, hyperactivity and psychiatric vulnerability. The other PWS and AS patients did not present genetic abnormalities in the IC, suggesting an epimutation as the genetic cause. The methylation pattern of two AS patients showed a faint maternal band corresponding to a mosaic ID. One of these mosaic patients displayed a mild AS phenotype while the other displayed a PWS-like phenotype.
ISSN:1769-7212
1878-0849
DOI:10.1016/j.ejmg.2006.10.001