Delineation of a new chromosome 20q11.2 duplication syndrome including the ASXL1 gene. Issue 7 (22nd May 2013)

• Record Type: Journal Article
• Authors: Avila, Magali; Kirchhoff, Maria; Marle, Nathalie; Hove, Hanna D.; Chouchane, Mondher; Thauvin‐Robinet, Christel; Masurel, Alice; Mosca‐Boidron, Anne‐Laure; Callier, Patrick; Mugneret, Francine; Kjaergaard, Susanne; Faivre, Laurence
• Is Part Of: American journal of medical genetics. Volume 161:Issue 7(2013:Jul.)
• Page Start: 1594
• Page End: 1598
• Publication Date: 2013-05-22
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.35970
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main" xml:lang="en"> <title>Abstract</title> <sec id="ajmga35970-sec-0001" sec-type="section"> <p>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 <italic>ASXL1</italic> 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 <italic>ASXL1</italic> 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.</p> </sec> </abstract>