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Evaluation of PRDM9 variation as a risk factor for recurrent genomic disorders and chromosomal non-disjunction

Cheung, Fanny
Stewart, Helen
Koolen, David A
Phillips, Christopher
Thomas, N Simon
Jacobs, Patricia A
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Published in Human Genetics. 2012, vol. 131, no. 9, p. 1519-24
Abstract Recent studies have identified PRDM9, a zinc finger (ZF) protein, as a key regulator of meiotic recombination. As both recurrent genomic disorders and chromosomal non-disjunction are known to be associated with specific unusual patterns of recombination, we hypothesized a possible link between PRDM9 ZF variation and susceptibility to microdeletion syndromes and/or trisomy. We sequenced the PRDM9 ZF domain in 271 parents of patients with de novo microdeletions of known parental origin (velocardiofacial syndrome, the 17q21.31 microdeletion syndrome, Prader-Willi/Angelman syndrome and Williams-Beuren syndrome), and in 61 parents of individuals with a supernumerary X chromosome. We compared PRDM9 ZF genotype frequencies between parents in whose germ line the de novo rearrangement occurred and their spouses. We observed a significantly increased frequency (p = 0.006) of PRDM9 variants in parents who transmitted de novo 7q11.23 deletions to their offspring. These data suggest that certain PRDM9 alleles may be associated with an increased susceptibility to recurrent 7q11.23 microdeletions that cause Williams-Beuren syndrome. However, as the majority of parents who transmitted a de novo microdeletion/supernumerary X chromosome to their offspring have the common AA genotype, we conclude that none of the rearrangements we have studied are dependent on specific non-A PRDM9 alleles.
Keywords Genetic Diseases, Inborn/geneticsGenetic Predisposition to DiseaseGenetic VariationGenomicsHumansNondisjunction, Genetic
PMID: 22643917
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Research group Laboratoire d'imagerie et de psychopathologie développementale (693)
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BOREL, Christelle et al. Evaluation of PRDM9 variation as a risk factor for recurrent genomic disorders and chromosomal non-disjunction. In: Human Genetics, 2012, vol. 131, n° 9, p. 1519-24. doi: 10.1007/s00439-012-1180-4 https://archive-ouverte.unige.ch/unige:29202

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Deposited on : 2013-08-12

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