⌘+K

Pulse Explore Communities Researchers Journals

Home Communities Explore

January 30, 2026Prenatal DiagnosisOpen Access

Severe Prenatal Presentation of Adenylosuccinate Lyase Deficiency Caused by a Synonymous ADSL Variant Inducing Aberrant Splicing

Aysegül Klapperich Václava Škopová Mert Karakaya Clara Velmans Christian Netzer Brigitte Strizek Lenka Steiner Mrazova Marie Zikánová

View Full Paper

Ask AI

Bookmark

Share

Key Points

To investigate the impact of a synonymous ADSL variant on splicing and its implications for prenatal severity of deficiency.
Analyzed genetic variants in subjects with severe prenatal symptoms.
Conducted splicing assays to assess variant effects.
Performed clinical evaluations and genetic screenings.
Identified a synonymous ADSL variant associated with aberrant splicing.
Confirmed severe prenatal presentation due to the deficiency.
Provided evidence linking genetic alterations to clinical outcomes.

No abstract yet

We only have this paper's title and publication details.

Read it at the source→

Implication

Demonstrates aberrant splicing due to a synonymous ADLS variant causing severe deficiency in prenatal cases, suggesting critical genetic insights.

Abstract

Key Summary What is already known about this topic? What does this study add?

Discussion

No takes yet. Share an insight, caveat, or question.

Cite This Study

Klapperich et al. (2026) studied this question.

synapsesocial.com/papers/6980fe9bc1c9540dea810cd2 https://doi.org/10.1002/pd.70087

View Full Paper

Ask AI

Bookmark

Share

Keep reading

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1A novel homozygous variant causing fatal neonatal adenylosuccinate lyase (ADSL) deficiency presenting with respiratory failure and encephalopathyOriginal Research · 2026
2Prenatal-Onset Lethal Adenylosuccinate Lyase Deficiency Diagnosed by Rapid Whole Genome Sequencing: A Case ReportCase Report · 2026
3Emerging Role of the Complement System in the Induction of Neuroinflammation in Adenylosuccinate Lyase Deficiency Disorder2025 · 1 citations
4ADSL deficiency is a secondary mitochondrial disease affecting organelle homeostasis and ERK2/AKT signaling in a linear genotype-phenotype relation2025 · 4 citations
5The activity and expression of adenylosuccinate lyase were reduced during modern human evolution, affecting brain and behavior2025

More related papers

Editorial: Rare genetic disorders associated with intellectual disability2026
Expanding the Prenatal Phenotype of Lethal Congenital Contracture Syndrome 11: Novel Homozygous <i>GLDN</i> Variant in a Family With Recurrent Affected Fetuses2026
Genetic and functional correction of argininosuccinate lyase deficiency using CRISPR adenine base editors2024

More from Prenatal Diagnosis

Extended Non‐Invasive Prenatal Testing for Chromosomal and Monogenic Disorders by Cell‐Free DNA Sequencing: A Blinded Comparison With AmniocentesisTue,
Genome‐Wide NIPT With Fetal‐Fraction Enrichment and BinDel: Clinical Cohort Evaluation of Microdeletion and ‐Duplication DetectionSun,