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

COQ7 splice site variant causing a spastic paraparesis phenotype in siblings.

Journal of genetics - 1 Jan 2024

Sait Haseena, Pandey Manmohan, Phadke Shubha R

Abstract excerpt

The COQ7 gene is one of the causative genes for primary COQ10 deficiency-related disorders. OMIM-related phenotypes include severe encephalo-myo-nephrocardiopathy and distal hereditary motor neuronopathy. In the present study, we performed the exome sequencing analysis on the proband of a single family with two siblings affected by hereditary spastic paraparesis (HSP). Segregation analysis was conducted on the...

Read the complete abstract on PubMed

Topics

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

Share to Exome Sequencing
Share to Homozygote
Share to Paraparesis, Spastic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Pedigree

Share to Phenotype

Share to RNA Splice Sites

Share to Siblings

Share to Ubiquinone

Source

Identifiers

PMID: 39080983

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

COQ7 splice site variant causing a spastic paraparesis phenotype in siblings.PMID 39080983Read ↗

Homozygous COQ9 mutation: a new cause of potentially treatable hereditary spastic paraplegia.Semantic proximity Read ↗

Biallelic variants in the COQ4 gene caused hereditary spastic paraplegia predominant phenotype.Semantic proximity Read ↗

Homozygous variant in COQ7 causes autosomal recessive hereditary spastic paraplegia.Semantic proximity Read ↗

Identification of an additional deep intronic splice variant prompts critical evaluation of SPG7 inheritance.Semantic proximity Read ↗

COQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency with cardiomyopathy and gastrointestinal obstruction.Semantic proximity Read ↗

Biallelic COQ4 Variants in Hereditary Spastic Paraplegia: Clinical and Molecular Characterization.Semantic proximity Read ↗

New variants expand the neurological phenotype of COQ7 deficiency.Semantic proximity Read ↗

Clinical spectrum in multiple families with primary COQ10 deficiency.Semantic proximity Read ↗

Whole exome sequencing identified two novel homozygous missense variants in the same codon of CLCN7 underlying autosomal recessive infantile malignant osteopetrosis in a Pakistani family.Semantic proximity Read ↗

A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia.Semantic proximity Read ↗

COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency.Semantic proximity Read ↗

A biallelic variant of DCAF13 implicated in a neuromuscular disorder in humans.Semantic proximity Read ↗

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