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

doi:10.1002/ajmg.a.62694

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

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

Affiliations

¹ Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.
² Department of Molecular Medicine and Medical Biotechnology, University Federico II, Naples, Italy.
³ Genetics and Rare Disease Research Division, Bambino Gesu Children Hospital, IRCCS, Rome, Italy.
⁴ Department of Biomedical Sciences, Clinical Genetics Service, Azienda Ospedaliero-Universitaria, Sassari, Italy.

PMID: 35238482
DOI: 10.1002/ajmg.a.62694

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.

Keywords: CASK; DDX3X; USP9X; Xp11.4 deletion; Xp11.4 duplication.

Publication types

Case Reports

MeSH terms

Chromosomes, Human, X
DEAD-box RNA Helicases / genetics
Female
Humans
Intellectual Disability* / genetics
Male
Phenotype
Ubiquitin Thiolesterase / genetics

Substances

USP9X protein, human
Ubiquitin Thiolesterase
DDX3X protein, human
DEAD-box RNA Helicases