Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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 - 1 Jun 2022

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

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Chromosomes, Human, X
Share to DEAD-box RNA Helicases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Intellectual Disability

Share to Phenotype

Share to Ubiquitin Thiolesterase

Source

Identifiers

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

Provenance

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

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Reciprocal Xp11.4p11.3 microdeletion/microduplication spanning USP9X, DDX3X, and CASK genes in two patients with syndromic intellectual disability.PMID 35238482Read ↗

Two females with mutations in USP9X highlight the variable expressivity of the intellectual disability syndrome.Semantic proximity Read ↗

Novel USP9X variant associated with syndromic intellectual disability in a female: A case study and review.Semantic proximity Read ↗

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.Semantic proximity Read ↗

Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature.Semantic proximity Read ↗

Pure de-novo 5 Mb duplication at Xp11.22-p11.23 in a male: phenotypic and molecular characterization.Semantic proximity Read ↗

Female-restricted syndromic intellectual disability in a patient from Thailand.Semantic proximity Read ↗

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.Semantic proximity Read ↗

Xp22.33 Duplication Encompassing PAR1 in a Male with Syndromic Neurodevelopmental Disorder and Tall Stature.Semantic proximity Read ↗

IQSEC2 and X-linked syndromal intellectual disability.Semantic proximity Read ↗

A novel Xp22.11 deletion causing a syndrome of craniosynostosis and periventricular nodular heterotopia.Semantic proximity Read ↗

The Great Escape: A Case Series on DDX3X Craniofacial Phenotypes in Females.Semantic proximity Read ↗

Unusual X-chromosome inactivation pattern in patients with Xp11.23-p11.22 duplication: Report and review.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.