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 new family with spastic paraplegia type 51 and novel mutations in AP4E1.

BMC medical genomics - 18 May 2021

Winkler Izabela, Miotła Paweł, Lejman Monika, Pietrzyk Aleksandra, Kacprzak Magdalena, Kubiak Marcin, Sobczyńska-Tomaszewska Agnieszka, Skrzypczak Maciej, Jaszczuk Ilona

Abstract excerpt

BACKGROUND: Autosomal recessive mutations in the AP-4 (adaptor protein complex 4) complex subunit ϵ - 1 (AP-4E1) gene on chromosome 15q21.2 are known to cause spastic paraplegia 51 (SPG51). The exact phenotype of SPG51 remains poorly characterized, because only a few families have been reported as carriers of the mutation. In addition, a previous study identified an autosomal dominant mutation in the AP4E1 gene...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Intellectual Disability

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Pedigree

Share to Phenotype

Share to Spastic Paraplegia, Hereditary

Source

Open in PubMed Open full text

Identifiers

PMID: 34006278
DOI: 10.1186/s12920-021-00980-5
PMCID: PMC8130362

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 new family with spastic paraplegia type 51 and novel mutations in AP4E1.PMID 34006278Read ↗

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 ↗

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

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

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

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

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

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

Comprehensive genotype-phenotype correlation in AP-4 deficiency syndrome; Adding data from a large cohort of Iranian patients.Semantic proximity Read ↗

Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disabilitySemantic proximity Read ↗

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