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

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

American journal of medical genetics. Part A 2022 Jun

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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. © 2022 Wiley Periodicals LLC.

Citation

Giorgia Catino, Silvia Genovese, Silvia Di Tommaso, Valeria Orlando, Maria Teresa Petti, Margherita Lucia De Bernardi, Bruno Dallapiccola, Antonio Novelli, Lucia Ulgheri, Carmelo Piscopo, Viola Alesi. Reciprocal Xp11.4p11.3 microdeletion/microduplication spanning USP9X, DDX3X, and CASK genes in two patients with syndromic intellectual disability. American journal of medical genetics. Part A. 2022 Jun;188(6):1836-1847