Lenticulostriate vasculopathy in newborns: whole genome sequencing data analysis.

Svetlana Dauengauer-Kirlienė, Dovydas Pranauskas, Yogen Singh, Vaidutis Kučinskas, Alina Urnikytė

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In one paragraph

Article in Frontiers in pediatrics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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5 · Who and what money

Authors and funding

5 authors.

Svetlana Dauengauer-KirlienėDepartment of Human and Medical Genetics, Faculty of Medicine, Institute of Biomedical Sciences, Vilnius University, Vilnius, Lithuania.

Dovydas PranauskasDepartment of Human and Medical Genetics, Faculty of Medicine, Institute of Biomedical Sciences, Vilnius University, Vilnius, Lithuania.

Yogen SinghDepartment of Pediatrics, Division of Neonatology, University of California-UC Davis Children's Hospital, Sacramento, CA, United States.

Vaidutis KučinskasPopulational Genomics Laboratory, Faculty of Medicine, Translational Health Research Institute, Vilnius University, Vilnius, Lithuania.

Alina UrnikytėPopulational Genomics Laboratory, Faculty of Medicine, Translational Health Research Institute, Vilnius University, Vilnius, Lithuania.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objectives: Lenticulostriate vasculopathy (LSV) refers to hyperechogenic vessels detected in thalami and basal ganglia, using cranial ultrasound. Awareness of LSV has revealed its links to various neonatal diseases that can affect brain development ante- or postnatally. Congenital infections and hypoxic- ischemic conditions are the main risk factors of LSV. However, precise etiology of LSV remains unknown. The aim of this study was to analyze the whole genome sequencing (WGS) data of newborns diagnosed with LSV to evaluate genetic linkages with LSV manifestation. Study design: We analyzed whole genome sequencing variation data of newborns with LSV ( Results: We identified one exonic nonsynonymous variant putatively associated with LSV, located in Conclusions: The identification of this unique variant in

Indexed as

lenticulostriate vasculopathynewbornspopulationultrasound scanswhole genome sequencing

Identifiers

PMID40894397

DOI10.3389/fped.2025.1531086

PMCPMC12391061

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LicenceCC BY

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.