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 novel recessive mutation in the gene ELOVL4 causes a neuro-ichthyotic disorder with variable expressivity.

BMC medical genetics - 26 Feb 2014

Mir Hina, Raza Syed Irfan, Touseef Muhammad, Memon Mazhar Mustafa, Khan Muhammad Nasim, Jaffar Sulman, Ahmad Wasim

Abstract excerpt

BACKGROUND: A rare neuro-ichthyotic disorder characterized by ichthyosis, spastic quadriplegia and intellectual disability and caused by recessive mutations in ELOVL4, encoding elongase-4 protein has recently been described. The objective of the study was to search for sequence variants in the gene ELOVL4 in three affected individuals of a consanguineous Pakistani family exhibiting features of neuro-ichthyotic...

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Codon, Nonsense

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Consanguinity

Share to Eye Abnormalities

Share to Eye Proteins

Share to Genes, Recessive

Share to Ichthyosis

Share to Intellectual Disability

Source

Open in PubMed Open full text

Identifiers

PMID: 24571530
DOI: 10.1186/1471-2350-15-25
PMCID: PMC3941482

Genes

ELOVL4

Variants

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 novel recessive mutation in the gene ELOVL4 causes a neuro-ichthyotic disorder with variable expressivity.PMID 24571530Read ↗

Expanding the allelic spectrum of ELOVL4-related autosomal recessive neuro-ichthyosis.Semantic proximity Read ↗

Two Italian Patients with ELOVL4-Related Neuro-Ichthyosis: Expanding the Genotypic and Phenotypic Spectrum and Ultrastructural Characterization.Semantic proximity Read ↗

Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features.Semantic proximity Read ↗

Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia.Semantic proximity Read ↗

Hypomyelinating spastic dyskinesia and ichthyosis caused by a homozygous splice site mutation leading to exon skipping in ELOVL1.Semantic proximity Read ↗

Different Mutations in ELOVL4 Affect Very Long Chain Fatty Acid Biosynthesis to Cause Variable Neurological Disorders in Humans.Semantic proximity Read ↗

Variants in NIPAL4 and ALOXE3 cause autosomal recessive congenital ichthyosis in Pakistani families.Semantic proximity Read ↗

A family study and literature review of ELOVL4-associated spinocerebellar ataxia type 34Semantic proximity Read ↗

Complicated Spastic Paraparesis: Study of a Patient With a De Novo Pathogenic Variant in ELOVL1.Semantic proximity Read ↗

A Novel Mutation in ELOVL4 Leading to Spinocerebellar Ataxia (SCA) With the Hot Cross Bun Sign but Lacking Erythrokeratodermia: A Broadened Spectrum of SCA34.Semantic proximity Read ↗

Lamellar ichthyosis caused by a previously unreported homozygous ALOXE3 mutation in East Asia.Semantic proximity Read ↗

Clinical and molecular findings in a Turkish family with an ultra-rare condition, ELP2-related neurodevelopmental disorder.Semantic proximity Read ↗

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