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

Monoallelic SH2B1 Variants in Neurodevelopmental Disorders: Phenotypic Expansion and Functional Characterization of Rare Variants.

Molecular genetics & genomic medicine - 1 Sept 2026

Xu Xin, Yuan Gege, Zheng Bixia, Wang Chunli, Zhou Wei, Huang Songming, Du Senjie, He Yikang

Abstract excerpt

BACKGROUND: SH2B1 encodes an adaptor protein involved in metabolic regulation and body-weight control. Although SH2B1 haploinsufficiency is a recognized contributor to obesity in 16p11.2 deletion syndrome, the relationship between rare monoallelic SH2B1 variants and neurodevelopmental disorders (NDDs) remains poorly characterized. METHODS: We analyzed genetic and clinical data from a cohort of individuals with...

Read the complete abstract on PubMed

Topics

Humans
Adaptor Proteins, Signal Transducing
Female
Neurodevelopmental Disorders
Male
Phenotype

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Child

Child, Preschool

Mutation, Missense

Adolescent

Alleles

Source

Open in PubMed Open full text

Identifiers

PMID: 42764254
DOI: 10.1002/mgg3.70306
PMCID: PMC13590433

Genes

SH2B1
EGF

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Monoallelic SH2B1 Variants in Neurodevelopmental Disorders: Phenotypic Expansion and Functional Characterization of Rare Variants.PMID 42764254Read ↗

Crucial Role of the SH2B1 PH Domain for the Control of Energy BalanceSemantic proximity Read ↗

Functional Characterization of Obesity-Associated Variants Involving the α and β Isoforms of Human SH2B1Semantic proximity Read ↗

Human SH2B1 mutations are associated with maladaptive behaviors and obesity.Semantic proximity Read ↗

SATB2-Associated Syndrome Due to a c.715C>T:p(Arg239*) Variant in Adulthood: Natural History and Literature Review.Semantic proximity Read ↗

Protein-truncating variants in BSN are associated with severe adult-onset obesity, type 2 diabetes and fatty liver disease.Semantic proximity Read ↗

SATB2-associated syndrome: Mechanisms, phenotype, and practical recommendations.Semantic proximity Read ↗

Mutation screen in the GWAS derived obesity gene SH2B1 including functional analyses of detected variants.Semantic proximity Read ↗

Genetic and structural variation in the SH2B1 gene in the Belgian population.Semantic proximity Read ↗

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

Protein-truncating variants in<i>BSN</i>are associated with severe adult-onset obesity, type 2 diabetes and fatty liver diseaseSemantic proximity Read ↗

Discordant phenotypes in monozygotic twins with 16p11.2 microdeletions including the SH2B1 gene.Semantic proximity Read ↗

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunctionSemantic proximity Read ↗

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