Centre de Génétique et Centre de Référence Maladies Rares 'Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est', Hôpital d'Enfants, CHU, Dijon, France.
Am J Med Genet A. 2013 Jul;161A(7):1594-8. doi: 10.1002/ajmg.a.35970. Epub 2013 May 22.
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.
我们报告了三名男性患有新发的 20q11.2 号染色体 7.5、9.8 和 10Mb 重叠重复。结合文献中另一名患有重叠 20q11 微重复的患者，我们发现这些患者具有共同的临床特征，包括中颅缝狭窄/三角头畸形、发育迟缓、内眦赘皮和短手。该重复包含 ASXL1 基因，最近有报道称患有 Borhing-Opitz 综合征的患者存在该基因的新生杂合无义或截断突变。由于与 Borhing-Opitz 综合征共有的颅面特征，特别是中颅缝狭窄/三角头畸形，我们认为 ASXL1 的重复导致了表型。这些观察结果表明存在一种新的微重复综合征，进一步报道具有分子特征的患者将有助于更详细的基因型-表型相关性研究。
