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

Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutations.

Journal of human genetics - 1 Jun 2016

Iwama Kazuhiro, Sasaki Masayuki, Hirabayashi Shinichi, Ohba Chihiro, Iwabuchi Emi, Miyatake Satoko, Nakashima Mitsuko, Miyake Noriko, Ito Shuichi, Saitsu Hirotomo, Matsumoto Naomichi

Abstract excerpt

Cerebellar atrophy is recognized in various types of childhood neurological disorders with clinical and genetic heterogeneity. Genetic analyses such as whole exome sequencing are useful for elucidating the genetic basis of these conditions. Pathological recessive mutations in Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase (SEPSECS) have been reported in a total of 11 patients with pontocerebellar...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Substitution
Share to Amino Acyl-tRNA Synthetases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to High-Throughput Nucleotide Sequencing

Share to Infant

Share to Magnetic Resonance Imaging

Share to Pedigree

Source

Identifiers

PMID: 26888482
DOI: 10.1038/jhg.2016.9

Genes

SEPSECS

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

Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutations.PMID 26888482Read ↗

A SEPSECS mutation in a 23‐year‐old woman with microcephaly and progressive cerebellar ataxiaSemantic proximity Read ↗

Biallelic SEPSECS variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in disease.Semantic proximity Read ↗

Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate.Semantic proximity Read ↗

Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy.Semantic proximity Read ↗

Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency.Semantic proximity Read ↗

EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations.Semantic proximity Read ↗

Two siblings with a novel variant of EXOSC3 extended phenotypic spectrum of pontocerebellar hypoplasia 1B to an exceptionally mild form.Semantic proximity Read ↗

EEFSEC deficiency: A selenopathy with early-onset neurodegeneration.Semantic proximity Read ↗

Structural basis for early-onset neurological disorders caused by mutations in human selenocysteine synthase.Semantic proximity Read ↗

Analysis of the Clinical Features and Imaging Findings of Pontocerebellar Hypoplasia Type 2D Caused by Mutations in SEPSECS Gene.Semantic proximity Read ↗

Novel EXOSC3 mutation causes complicated hereditary spastic paraplegia.Semantic proximity Read ↗

A missense variant in EXOSC8 causes exon skipping and expands the phenotypic spectrum of pontocerebellar hypoplasia type 1C.Semantic proximity Read ↗

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