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

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

Cold Spring Harbor molecular case studies - 1 Feb 2022

Ramadesikan Swetha, Hickey Scott, De Los Reyes Emily, Patel Anup D, Franklin Samuel J, Brennan Patrick, Crist Erin, Lee Kristy, White Peter, McBride Kim L, Koboldt Daniel C, Wilson Richard K

Abstract excerpt

Noncoding and synonymous coding variants that exert their effects via alternative splicing are increasingly recognized as an important category of disease-causing variants. In this report, we describe two siblings who presented with hypotonia, profound developmental delays, and seizures. Brain magnetic resonance imaging (MRI) in the proband at 5 yr showed diffuse cerebral and cerebellar white matter volume loss....

Read the complete abstract on PubMed

Topics

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

Share to Amino Acyl-tRNA Synthetases
Share to Cerebellar Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Microcephaly

Share to Mutation

Share to Siblings

Source

Open in PubMed Open full text

Identifiers

PMID: 35091508
DOI: 10.1101/mcs.a006165
PMCID: PMC8958912

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

Biallelic SEPSECS variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in disease.PMID 35091508Read ↗

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

Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutations.Semantic proximity Read ↗

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

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

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

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

Pontocerebellar hypoplasia associated with p.Arg183Trp homozygous variant in EXOSC1 gene: A case report.Semantic proximity Read ↗

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

Bi-allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia.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 ↗

Genetic and clinical insights into pontocerebellar hypoplasia: Identification of novel variants in an Iranian cohort.Semantic proximity Read ↗

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