Angelman syndrome in an inbred family |
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| Authors: | Joke Beuten Raoul C M Hennekam Bernadette Van Roy Kathelijne Mangelschots James S Sutcliffe Dicky J J Halley Frederic A M Hennekam Arthur L Beaudet Patrick J Willems |
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| Institution: | (1) Department of Medical Genetics, University of Antwerp - UIA, B-2610 Antwerp, Belgium;(2) Institute of Human Genetics and Department of Pediatrics, University of Amsterdam, Amsterdam, The Netherlands;(3) Department for Molecular and Human Genetics, Baylor College of Medicine and Howard Hughes Medical Institute, Houston, USA;(4) Department of Clinical Genetics, Erasmus University Rotterdam, The Netherlands;(5) Clinical Genetics Center, Utrecht, The Netherlands |
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| Abstract: | Angelman syndrome (AS) is characterized by severe mental retardation, absent speech, puppet-like movements, inappropriate laughter, epilepsy, and abnormal electroencephalogram. The majority of AS patients ( 65%) have a maternal deficiency within chromosomal region 15q11–q13, caused by maternal deletion or paternal uniparental disomy (UPD). Approximately 35% of AS patients exhibit neither detectable deletion nor UPD, but a subset of these patients have abnormal methylation at several loci in the 15q11–q13 interval. We describe here three patients with Angelman syndrome belonging to an extended inbred family. High resolution chromosome analysis combined with DNA analysis using 14 marker loci from the 15q11-q13 region failed to detect a deletion in any of the three patients. Paternal UPD of chromosome 15 was detected in one case, while the other two patients have abnormal methylation atD15S9, D15S63, andSNRPN. Although the three patients are distantly related, the chromosome 15q11-q13 haplotypes are different, suggesting that independent mutations gave rise to AS in this family. |
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