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

Novel Genetic and Phenotypic Expansion in Ameliorated PUF60-Related Disorders.

International journal of molecular sciences - 8 Feb 2024

Baum Emily, Huang Wenming, Vincent-Delorme Catherine, Brunelle Perrine, Antebi Adam, Dafsari Hormos Salimi

Abstract excerpt

Heterozygous variants in the Poly(U) Binding Splicing Factor 60kDa gene (PUF60) have been associated with Verheij syndrome, which has the key features of coloboma, short stature, skeletal abnormalities, developmental delay, palatal abnormalities, and congenital heart and kidney defects. Here, we report five novel patients from unrelated families with PUF60-related disorders exhibiting novel genetic and clinical...

Read the complete abstract on PubMed

Topics

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

Share to Coloboma
Share to Genetics and Neurodevelopmental Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genomics and Rare Diseases

Share to Mutation, Missense

Share to Neurodevelopmental Disorders

Share to Neurogenetic and Muscular Disorders Research

Share to Phenotype

Share to RNA Splicing Factors

Source

Open in PubMed Open full text

Identifiers

PMID: 38396730
DOI: 10.3390/ijms25042053
PMCID: PMC10889399

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel Genetic and Phenotypic Expansion in Ameliorated PUF60-Related Disorders.PMID 38396730Read ↗

PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features.Semantic proximity Read ↗

Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature.Semantic proximity Read ↗

The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome.Semantic proximity Read ↗

Identification of a novel de novo PUF60 variant causing Verheij syndrome in a fetus.Semantic proximity Read ↗

Novel PUF60 variant suggesting an interaction between Verheij and Cornelia de Lange syndrome: phenotype description and review of the literature.Semantic proximity Read ↗

PUF60 loss-of-function with normal cognition should be considered in the differential diagnosis of Klippel-Feil syndrome.Semantic proximity Read ↗

Protein elongation variant of PUF60: Milder phenotypic end of the Verheij syndrome.Semantic proximity Read ↗

Identification of a de novo PUF60 variant associated with craniofacial microsomia.Semantic proximity Read ↗

First report of tethered cord syndrome in a patient with Verheij syndrome.Semantic proximity Read ↗

[Clinical and genetic analysis of Verheij syndrome caused by PUF60 de novo mutation in a Chinese boy and literature review].Semantic proximity Read ↗

Vitamin B <sub>12</sub> alleviates Verheij syndrome-like defects via phospholipid remodeling in a <i>C. elegans</i> PUF60 spliceosomopathy modelSemantic proximity Read ↗

Spliceosomopathies and neurocristopathies: Two sides of the same coin?Semantic proximity Read ↗

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