PMID: 9188662Jun 13, 1997Paper

Unexpected familial recurrence in Angelman syndrome

American Journal of Medical Genetics
K J Connerton-MoyerR M Pauli

Abstract

We report on two instances of familial recurrence of Angelman syndrome which, from pedigree analysis, appear incompatible with currently known mechanisms of inheritance of this disorder. In these two families, deletion-positive Angelman syndrome has recurred in cousins. Several established mechanisms for deletion-positive familial recurrence have been ruled out. In each family, molecular cytogenetic studies show typical chromosome 15 deletions, and DNA methylation analysis verifies the maternal origin of the deleted chromosomes in all four individuals. Since the mothers of the affected individuals in each family are not known to be related, these recurrences appear to be secondary to coincidental, de novo events. This conclusion is consistent with direct and indirect estimates of the population frequency of Angelman syndrome.

References

Jun 1, 1992·Journal of Medical Genetics·J Clayton-Smith, M E Pembrey
Sep 1, 1990·American Journal of Medical Genetics·L BurdJ Kerbeshian
Jan 1, 1989·Archives of Disease in Childhood·S A RobbE M Brett
Dec 19, 1987·Lancet·S M Strakowski, M G Butler
Oct 1, 1984·American Journal of Medical Genetics·C A ReiserJ G Hall
Apr 1, 1982·American Journal of Medical Genetics·C A Williams, J L Frias
Mar 27, 1995·American Journal of Medical Genetics·C A WilliamsE M Whidden
Aug 15, 1994·American Journal of Medical Genetics·S SaitohJ Wagstaff
Jan 1, 1993·Human Genetics·J BeutenP J Willems
Apr 1, 1993·American Journal of Medical Genetics·J L ZackowskiC A Williams
Feb 24, 1994·The New England Journal of Medicine·L C SurhA G Hunter
Apr 1, 1993·American Journal of Medical Genetics·R D Nicholls
Mar 1, 1993·American Journal of Medical Genetics·S B FreemanT J Hassold
Aug 1, 1995·Current Problems in Pediatrics·C A WilliamsD J Driscoll
Jul 23, 1996·Proceedings of the National Academy of Sciences of the United States of America·S SaitohR D Nicholls
Mar 1, 1996·Human Genetics·J BeutenP J Willems

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Citations

Dec 7, 2013·American Journal of Medical Genetics. Part a·Javier SánchezSalud Borrego

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