Biallelic Novel SKOR2 Variants in Individuals With Cerebellar Hypoplasia and Intellectual Disability, Expanding the Phenotypic Spectrum of Valence-Farazi Cerebellar Ataxia Syndrome.

doi:10.1002/ajmg.a.70125

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

Community

Back to search

Article

Biallelic Novel SKOR2 Variants in Individuals With Cerebellar Hypoplasia and Intellectual Disability, Expanding the Phenotypic Spectrum of Valence-Farazi Cerebellar Ataxia Syndrome.

American journal of medical genetics. Part A - 1 Jul 2026

Abu-El-Haija Aya, Bayat Allan, Mancılar Hanifenur, Uctepe Eyyup, Esen Fatma Nisa, Tumer Sait, Metli Kübra, Yesilyurt Ahmet, Jamra Rami Abou, Lalani Seema, Levy Rebecca, Mihalek Ivana, Redler Silke, Mullegama Sureni V, Umair Muhammad, Wegler Meret, Nawaz Shoaib, Yang Edward, Bodamer Olaf

Abstract excerpt

The embryonic development of the cerebellum is orchestrated through a dynamic process that governs the interplay of Purkinje and granule cell populations. SKOR2 (Fussel 18) is a transcriptional co-repressor that increases SHH (sonic hedgehog) expression which is a potent signal for granule cell proliferation and integration into the complex neuronal network that underlies cerebellar function and development....

Read the complete abstract on PubMed

Topics

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

Share to Cerebellar Ataxia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cerebellum

Share to Developmental Disabilities

Share to Genetic Association Studies

Share to Homozygote

Share to Intellectual Disability

Share to Nervous System Malformations

Share to Syndrome

Source

Open in PubMed

Identifiers

PMID: 41821366
DOI: 10.1002/ajmg.a.70125

Genes

SKOR2
SHH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Biallelic Novel SKOR2 Variants in Individuals With Cerebellar Hypoplasia and Intellectual Disability, Expanding the Phenotypic Spectrum of Valence-Farazi Cerebellar Ataxia Syndrome.PMID 41821366Read ↗

Transposon mutagenesis with coat color genotyping identifies an essential role for Skor2 in sonic hedgehog signaling and cerebellum development.Semantic proximity Read ↗

Sonic Hedgehog Intron Variant Associated With an Unusual Pediatric Cortical Cataract.Semantic proximity Read ↗

Loss of Neuron Navigator 2 Impairs Brain and Cerebellar DevelopmentSemantic 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 ↗

Late-onset sacsinopathy diagnosed by exome sequencing and comparative genomic hybridization.Semantic proximity Read ↗

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

Refining the phenotype of SINO syndrome: A comprehensive cohort report of 14 novel cases.Semantic proximity Read ↗

Developmental, Cognitive, Ocular Motor, and Neuroimaging Findings Related to SUFU Haploinsufficiency: Unraveling Subtle and Highly Variable Phenotypes.Semantic proximity Read ↗

Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination.Semantic proximity Read ↗

The Diagnostic Journey of a Patient with Prader-Willi-Like Syndrome and a Unique Homozygous SNURF-SNRPN Variant; Bio-Molecular Analysis and Review of the Literature.Semantic proximity Read ↗

Identification of CNKSR2 Pathogenic Variant and Detection of Strong XCI in a Female Patient With Severe DEE-SWAS and Phenotype Expansion in Male Patients.Semantic proximity Read ↗

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