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Delineation of a new chromosome 20q11.2 duplication syndrome including the ASXL1 gene
Author(s) -
Avila Magali,
Kirchhoff Maria,
Marle Nathalie,
Hove Hanna D.,
Chouchane Mondher,
ThauvinRobinet Christel,
Masurel Alice,
MoscaBoidron AnneLaure,
Callier Patrick,
Mugneret Francine,
Kjaergaard Susanne,
Faivre Laurence
Publication year - 2013
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.35970
Subject(s) - gene duplication , trigonocephaly , genetics , craniofacial , biology , phenotype , chromosome , gene , nonsense , craniofacial abnormality , craniosynostosis
We report on three males with de novo overlapping 7.5, 9.8, and 10 Mb duplication of chromosome 20q11.2. Together with another patient previously published in the literature with overlapping 20q11 microduplication, we show that such patients display common clinical features including metopic ridging/trigonocephaly, developmental delay, epicanthal folds, and short hands. The duplication comprised the ASXL1 gene, in which de novo heterozygous nonsense or truncating mutations have recently been reported in patients with Borhing–Opitz syndrome. Because of craniofacial features in common with Borhing–Opitz syndrome, in particular metopic ridging/trigonocephaly, we suggest that duplication of ASXL1 contributes to the phenotype. These observations suggest a novel microduplication syndrome, and reporting of additional patients with molecular characterization will allow more detailed genotype–phenotype correlations. © 2013 Wiley Periodicals, Inc.