Claudin-11-Mediated Hypomyelinating Leukodystrophy 22: New Insights Into Pathogenic Mechanisms.

doi:10.1111/cge.70212

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

Claudin-11-Mediated Hypomyelinating Leukodystrophy 22: New Insights Into Pathogenic Mechanisms.

Clinical genetics - 1 Oct 2026

Acquaviva Fabio, Troisi Serena, Errichiello Gabriella, Russo Carmela, Covelli Eugenio Maria, Siano Maria Anna, Manna Maria Rosaria, Tirozzi Alfonsina, De Brasi Daniele, Varone Antonio

Abstract excerpt

CLDN11 has recently been associated with hypomyelinating leukodystrophy caused by de novo stop-loss variants. Here, we present a new case involving a homozygous variant in order to expand the genetic and clinical spectrum of the disease. We performed a comprehensive clinical, neuroradiological, and genetic evaluation in a child presenting with global developmental delay. Brain MRI and MR spectroscopy were...

Read the complete abstract on PubMed

Topics

Child, Preschool
Female
Humans
Brain
Claudins
Developmental Disabilities

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

Genetic Predisposition to Disease

Hereditary Central Nervous System Demyelinating Diseases

Homozygote

Magnetic Resonance Imaging

Mutation

Pedigree

Phenotype

Psychomotor Disorders

Antiporters

Amino Acid Transport Systems, Acidic

Mitochondrial Diseases

Source

Open in PubMed Open full text

Identifiers

PMID: 42448642
DOI: 10.1111/cge.70212
PMCID: PMC13533868

Genes

CLDN11

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

Claudin-11-Mediated Hypomyelinating Leukodystrophy 22: New Insights Into Pathogenic Mechanisms.PMID 42448642Read ↗

De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy.Semantic proximity Read ↗

Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31.Semantic proximity Read ↗

Hypomyelinating leukodystrophies in adults: Clinical and genetic features.Semantic proximity Read ↗

8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature.Semantic proximity Read ↗

[Congenital hypomyelinating leukodystrophies--from genomic dissection to molecular diagnosis and potential therapies].Semantic proximity Read ↗

Hypomyelinating leukodystrophies - a molecular insight into the white matter pathology.Semantic proximity Read ↗

Genetic spectrum of hereditary neuropathies with onset in the first year of life.Semantic proximity Read ↗

Pelizaeus-Merzbacher-Like Disease 1 Caused by a Novel Mutation in GJC2 Gene: A Case Report.Semantic proximity Read ↗

Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder.Semantic proximity Read ↗

L1-associated diseases: clinical geneticists divide, molecular geneticists unite.Semantic proximity Read ↗

Case Report: Hypomyelinating Leukodystrophy Type 20 (HLD20) With Novel CNP Gene Variant.Semantic proximity Read ↗

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