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

Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia.

Orphanet journal of rare diseases - 2 Nov 2017

Bettencourt Conceição, Salpietro Vincenzo, Efthymiou Stephanie, Chelban Viorica, Hughes Deborah, Pittman Alan M, Federoff Monica, Bourinaris Thomas, Spilioti Martha, Deretzi Georgia, Kalantzakou Triantafyllia, Houlden Henry, Singleton Andrew B, Xiromerisiou Georgia

Abstract excerpt

BACKGROUND: Autosomal recessive hereditary spastic paraplegia (HSP) due to AP4M1 mutations is a very rare neurodevelopmental disorder reported for only a few patients. METHODS: We investigated a Greek HSP family using whole exome sequencing (WES). RESULTS: A novel AP4M1A frameshift insertion, and a very rare missense variant were identified in all three affected siblings in the compound heterozygous state...

Read the complete abstract on PubMed

Topics

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

Share to Basic Helix-Loop-Helix Leucine Zipper Transcription Factors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA-Binding Proteins

Share to Genetic Association Studies

Share to Mutation

Share to Pedigree

Share to RNA-Binding Proteins

Share to Spastic Paraplegia, Hereditary

Source

Open in PubMed Open full text

Identifiers

PMID: 29096665
DOI: 10.1186/s13023-017-0721-2
PMCID: PMC5669016

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia.PMID 29096665Read ↗

Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families.Semantic proximity Read ↗

Spastic paraplegia 51: phenotypic spectrum related to novel homozygous AP4E1 mutation.Semantic proximity Read ↗

Clinical and genetic characterization of AP4B1-associated SPG47.Semantic proximity Read ↗

AP4B1-associated hereditary spastic paraplegia: Expansion of clinico-genetic phenotype and geographic range.Semantic proximity Read ↗

Case report: Compound heterozygous mutations in AP4M1 gene identified in a Chinese infant with Infantile Spasms and Global developmental delaySemantic proximity Read ↗

Expanding the Genotypic and Phenotypic Spectrum of AP5Z1-Related Spastic Paraplegia: A Novel Variant and Comprehensive Literature Review.Semantic proximity Read ↗

Novel variants in AP4B1 cause spastic tetraplegia, moderate psychomotor development delay and febrile seizures in a Chinese patient: a case report.Semantic proximity Read ↗

Identification of mutations in AP4S1/SPG52 through next generation sequencing in three families.Semantic proximity Read ↗

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegiaSemantic proximity Read ↗

A novel loss of function mutation in adaptor protein complex 4, subunit mu-1 causing autosomal recessive spastic paraplegia 50.Semantic proximity Read ↗

Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: expansion of the facial and neuroimaging features.Semantic proximity Read ↗

Expanding the genetic and clinical landscapes of hereditary spastic paraplegia (HSP): a cohort study of 103 families.Semantic proximity Read ↗

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