NDLI: Different mechanisms and recurrence risks of imprinting defects in Angelman syndrome.

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Different mechanisms and recurrence risks of imprinting defects in Angelman syndrome.

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Different mechanisms and recurrence risks of imprinting defects in Angelman syndrome.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Lich, C. Reis, A. Buiting, K. Dittrich, B. Gross, S. Sperling, K. Horsthemke, B. Bürger, J.
Description	Country affiliation: Germany Author Affiliation: Bürger J ( Institute of Human Genetics, Virchow-Klinikum, Humboldt University, Berlin, Germany.)
Abstract	Angelman syndrome (AS) is a neurogenetic disorder that appears to be caused by the loss of function of an imprinted gene expressed from maternal chromosome 15 only. Approximately 6% of patients have a paternal imprint on the maternal chromosome. In the few cases, this is due to an inherited microdeletion, in the 15q11-q13 imprinting center (IC), that blocks the paternal-->maternal imprint switch in the maternal germ line. We have determined the segregation of 15q11-q13 haplotypes in nine families with AS and with an imprinting defect. One family, with two affected siblings, has a microdeletion affecting the IC transcript. In the other eight patients, no mutation was found at this locus. In two families, the patient and a healthy sibling share the same maternal alleles. In one of these families and in two others, grandparental DNA samples were available, and the chromosomes with the imprinting defect were found to be of grandmaternal origin. These findings suggest that germ-line mosaicism or de novo mutations account for a significant fraction of imprinting defects, among patients who have an as-yet-undetected mutation in a cis-acting element. Alternatively, these data may indicate that some imprinting defects are caused by a failure to maintain or to reestablish the maternal imprint in the maternal germ line or by a failure to replicate the imprint postzygotically. Depending on the underlying cause of the imprinting defect, different recurrence risks need to be considered.
ISSN	00029297
e-ISSN	15376605
Journal	The American Journal of Human Genetics
Issue Number	1
Volume Number	61
Language	English
Publisher	Cell Press (on behalf of American Society of Human Genetics)
Publisher Date	1997-07-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Angelman Syndrome Genetics Chromosomes, Human, Pair 15 Genomic Imprinting Physiopathology Haplotypes Pedigree Recurrence Research Support, Non-u.s. Gov't Discipline Human Genetics
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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