Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus.

doi:10.1016/j.ajhg.2024.11.003

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Article

Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus.

American journal of human genetics - 2 Jan 2025

Scala Marcello, Bradley Clarrisa A, Howe Jennifer L, Trost Brett, Salazar Nelson Bautista, Shum Carole, Mendes Marla, Reuter Miriam S, Anagnostou Evdokia, MacDonald Jeffrey R, Ko Sangyoon Y, Frankland Paul W, Charlebois Jessica, Elsabbagh Mayada, Granger Leslie, Anadiotis George, Pullano Verdiana, Brusco Alfredo, Keller Roberto, Parisotto Sarah, Pedro Helio F, Lusk Laina, McDonnell Pamela Pojomovsky, Helbig Ingo, Mullegama Sureni V, Douine Emilie D, Corona Rosario Ivetth, Russell Bianca E, Nelson Stanley F, Graziano Claudio, Schwab Maria, Simone Laurie, Zara Federico, Scherer Stephen W

Abstract excerpt

Autism spectrum disorder (ASD) exhibits an ∼4:1 male-to-female sex bias and is characterized by early-onset impairment of social/communication skills, restricted interests, and stereotyped behaviors. Disruption of the Xp22.11 locus has been associated with ASD in males. This locus includes the three-exon PTCHD1, an adjacent multi-isoform long noncoding RNA (lncRNA) named PTCHD1-AS (spanning ∼1 Mb), and a poorly...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39706195
DOI: 10.1016/j.ajhg.2024.11.003
PMCID: PMC11739878

Genes

DDX53
PTCHD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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