两名患有综合征性智力障碍的患者中出现了跨越USP9X、DDX3X和CASK基因的相互性Xp11.4p11.3微缺失/微重复。

Reciprocal Xp11.4p11.3 microdeletion/microduplication spanning USP9X, DDX3X, and CASK genes in two patients with syndromic intellectual disability.

作者信息

Catino Giorgia, Genovese Silvia, Di Tommaso Silvia, Orlando Valeria, Petti Maria Teresa, De Bernardi Margherita Lucia, Dallapiccola Bruno, Novelli Antonio, Ulgheri Lucia, Piscopo Carmelo, Alesi Viola

机构信息

Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.

Department of Molecular Medicine and Medical Biotechnology, University Federico II, Naples, Italy.

出版信息

Am J Med Genet A. 2022 Jun;188(6):1836-1847. doi: 10.1002/ajmg.a.62694. Epub 2022 Mar 3.

DOI:10.1002/ajmg.a.62694

PMID:35238482

Abstract

Only a few patients with deletions or duplications at Xp11.4, bridging USP9X, DDX3X, and CASK genes, have been described so far. Here, we report on a female harboring a de novo Xp11.4p11.3 deletion and a male with an overlapping duplication inherited from an unaffected mother, presenting with syndromic intellectual disability. We discuss the role of USP9X, DDX3X, and CASK genes in human development and describe the effects of Xp11.4 deletion and duplications in female and male patients, respectively.

摘要

到目前为止，仅报道了少数在Xp11.4处存在缺失或重复、跨越USP9X、DDX3X和CASK基因的患者。在此，我们报告一名患有新发Xp11.4p11.3缺失的女性以及一名从表型正常的母亲遗传了重叠重复片段的男性，他们均表现为综合征性智力障碍。我们讨论了USP9X、DDX3X和CASK基因在人类发育中的作用，并分别描述了Xp11.4缺失和重复对女性和男性患者的影响。