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

A biallelic SNIP1 Amish founder variant causes a recognizable neurodevelopmental disorder.

PLoS genetics - 1 Sept 2021

Ammous Zineb, Rawlins Lettie E, Jones Hannah, Leslie Joseph S, Wenger Olivia, Scott Ethan, Deline Jim, Herr Tom, Evans Rebecca, Scheid Angela, Kennedy Joanna, Chioza Barry A, Ames Ryan M, Cross Harold E, Puffenberger Erik G, Harries Lorna, Baple Emma L, Crosby Andrew H

Abstract excerpt

SNIP1 (Smad nuclear interacting protein 1) is a widely expressed transcriptional suppressor of the TGF-β signal-transduction pathway which plays a key role in human spliceosome function. Here, we describe extensive genetic studies and clinical findings of a complex inherited neurodevelopmental disorder in 35 individuals associated with a SNIP1 NM_024700.4:c.1097A>G, p.(Glu366Gly) variant, present at high...

Read the complete abstract on PubMed

Topics

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

Share to Alleles

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Expression

Share to Genes, Recessive

Share to Neurodevelopmental Disorders

Share to RNA-Binding Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 34570759
DOI: 10.1371/journal.pgen.1009803
PMCID: PMC8496849

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

A biallelic SNIP1 Amish founder variant causes a recognizable neurodevelopmental disorder.PMID 34570759Read ↗

Further phenotypic delineation of Alazami syndrome.Semantic proximity Read ↗

Expanding the SIAH1-Associated Phenotypic Spectrum: Insights From Loss-of-Function Variants.Semantic proximity Read ↗

Nonsense and Frameshift Mutations in ZFHX1B, Encoding Smad-Interacting Protein 1, Cause a Complex Developmental Disorder with a Great Variety of Clinical FeaturesSemantic proximity Read ↗

Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome.Semantic proximity Read ↗

<i>SETBP1</i>variants outside the degron disrupt DNA-binding and transcription independent of protein abundance to cause a heterogeneous neurodevelopmental disorderSemantic proximity Read ↗

A Splice-Region Variant Causes an Atypical Presentation of GNAS Inactivation Disorder.Semantic proximity Read ↗

hnRNPs: roles in neurodevelopment and implication for brain disordersSemantic proximity Read ↗

Cell-type-specific gene expression and regulation in the cerebral cortex and kidney of atypical <i>Setbp1</i> <sup>S858R</sup> Schinzel Giedion Syndrome miceSemantic proximity Read ↗

Expansion of the Phenotypic Spectrum of TNRC6B-Related Neurodevelopmental Disorder in a Three-Generation Family with 22q13.1 DeletionSemantic proximity Read ↗

De novo variants in SIAH1, encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features.Semantic proximity Read ↗

Characterization of functionally deficient SIM2 variants found in patients with neurological phenotypes.Semantic proximity Read ↗

Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease.Semantic proximity Read ↗

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