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 Variants Identified in Families With SNX27 -Related Neurodevelopmental Disorder, Aiding in Characterizing Its Genotypic and Phenotypic Spectrum.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 1 Apr 2026

Shan Tayyaba, Hussain Abrar, Acharya Anushree, Hussain Mulazim, Li Yumei, Hussain Hafiz Muhammad Jafar, Afshan Kiran, Leal Suzanne M, Chen Rui, Mir Asif, Schrauwen Isabelle, Firasat Sabika

Abstract excerpt

Sorting Nexin 27 (SNX27), a key regulator of synaptic receptor trafficking and endosomal recycling, has been implicated in maintaining synaptic homeostasis and cognitive function. To date, variants in SNX27 have been reported in a small number of patients across three publications with severe neurodevelopmental phenotypes. However, the genetic and functional landscape of SNX27-related disorders remains poorly...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Frameshift Mutation

Share to Homozygote

Share to Mutation, Missense

Share to Neurodevelopmental Disorders

Share to Pedigree

Share to Sorting Nexins

Source

Open in PubMed Open full text

Identifiers

PMID: 41609011
DOI: 10.1002/ajmgb.70005
PMCID: PMC13281953

Genes

SNX27

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

Novel Variants Identified in Families With SNX27 -Related Neurodevelopmental Disorder, Aiding in Characterizing Its Genotypic and Phenotypic Spectrum.PMID 41609011Read ↗

A defect in the retromer accessory protein, SNX27, manifests by infantile myoclonic epilepsy and neurodegeneration.Semantic proximity Read ↗

Exome sequencing in four families with neurodevelopmental disorders: genotype-phenotype correlation and identification of novel disease-causing variants in VPS13B and RELN.Semantic proximity Read ↗

SNAREs and developmental disorders.Semantic proximity Read ↗

ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum.Semantic proximity Read ↗

Clinical and molecular heterogeneity of VPS13D-related neurodevelopmental and movement disorders.Semantic proximity Read ↗

Clinical findings of 21 previously unreported probands with HNRNPU‐related syndrome and comprehensive literature reviewSemantic proximity Read ↗

Homozygous stop mutation in the SNX10 gene in a consanguineous Iraqi boy with osteopetrosis and corpus callosum hypoplasia.Semantic proximity Read ↗

A novel nonsense variant in EXOC8 underlies a neurodevelopmental disorder.Semantic proximity Read ↗

NRXN2 Homozygous Variant Identified in a Family with Global Developmental Delay, Severe Intellectual Disability, EEG Abnormalities and Speech Delay: A new Syndrome?Semantic proximity Read ↗

<i>De novo</i> variants in <i>SNAP25</i> cause an early-onset developmental and epileptic encephalopathySemantic proximity Read ↗

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.Semantic proximity Read ↗

Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases.Semantic proximity Read ↗

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