Discover Community Create You

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

USP34 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes.

Clinical genetics - 1 Sept 2026

Wigoda Helena, Khan Amjad, Mendelsohn Bryce A, Miyake Noriko, Okamoto Nobuhiko, Matsumoto Naomichi, Knijnenburg Patricia J C, van Hagen Johanna M, van de Kamp Jiddeke, Waisfisz Quinten, Webb Bryn D

Abstract excerpt

The 2p15p16.1 microdeletion syndrome is a rare neurodevelopmental disorder caused by heterozygous deletions of variable size involving multiple dosage-sensitive genes. Within the narrowed critical interval, USP34 has emerged as a particularly strong candidate for the core phenotype, supported by reports of smaller deletions involving only USP34 and XPO1, and by the fact that USP34 encodes a deubiquitinating...

Read the complete abstract on PubMed

Topics

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

Share to Child, Preschool
Share to Chromosome Deletion

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 2

Share to Developmental Disabilities

Share to Genetic Association Studies

Share to Haploinsufficiency

Share to Neurodevelopmental Disorders

Share to Ubiquitin-Specific Proteases

Source

Open in PubMed Open full text

Identifiers

PMID: 42315110
DOI: 10.1111/cge.70194
PMCID: PMC13432289

Genes

USP34
XPO1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

USP34 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes.PMID 42315110Read ↗

Haploinsufficiency of XPO1 and USP34 by a de novo 230 kb deletion in 2p15, in a patient with mild intellectual disability and cranio-facial dysmorphisms.Semantic proximity Read ↗

A heterozygous germline deletion within USP8 causes severe neurodevelopmental delay with multiorgan abnormalitiesSemantic proximity Read ↗

USP15 mutation associated with autism spectrum disorder alters progenitor fate and neuronal maturation in human brain organoids.Semantic proximity Read ↗

Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth.Semantic proximity Read ↗

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.Semantic proximity Read ↗

Zooming into rearranged genome: applying pipeline of cytological, genomic, and transcriptomic methods for structural variant interpretationSemantic proximity Read ↗

A novel missense variant in OTUD5 causes X-linked multiple congenital anomalies-neurodevelopmental syndrome.Semantic proximity Read ↗

Biallelic USP14 variants cause a syndromic neurodevelopmental disorder.Semantic proximity Read ↗

Characteristics of 2p15-p16.1 microdeletion syndrome: Review and description of two additional patients.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 ↗

Concurrent de novo ZFHX4 variant and 16q24.1 deletion in a patient with orofacial clefting; a potential role of ZFHX4 and USP10.Semantic proximity Read ↗

Usp16 contributes to somatic stem-cell defects in Down’s syndromeSemantic proximity Read ↗

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