ArticleJournal of human genetics2020
Novel compound heterozygous variants in NHLRC2 in a patient with FINCA syndrome.
Article in Journal of human genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 23 citations in OpenAlex.
- Expanding the Genomic Spectrum ofInternational journal of molecular sciences · 2026Article
- Altered behaviour and immune response in mice with NHLRC2 p.Asp148Tyr variant.Brain, behavior, & immunity - health · 2025Article
- Case Report: Clinical manifestations and treatment of two Chinese patients with FINCA syndrome carrying a novel variant ofFrontiers in pediatrics · 2024Article
- Exome sequencing in 90 children with developmental delay: a single-center experience.Frontiers in genetics · 2024Article
- Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals.European journal of human genetics : EJHG · 2023Article
- High NHLRC2 expression is associated with shortened survival in lung adenocarcinoma.Translational lung cancer research · 2023Article
- Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease.Frontiers in neuroscience · 2023Article
- NHLRC2 expression is increased in idiopathic pulmonary fibrosis.Respiratory research · 2022Article
- FINCA syndrome-Defining neurobehavioral phenotype in survivors into late childhood.Molecular genetics & genomic medicine · 2022Article
- Nhlrc2 is crucial during mouse gastrulation.Genesis (New York, N.Y. : 2000) · 2022Article
- Variant in NHLRC2 leads to increased hnRNP C2 in developing neurons and the hippocampus of a mouse model of FINCA disease.Molecular medicine (Cambridge, Mass.) · 2020Article
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Authors and funding
9 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Two variants in the ubiquitously expressed NHLRC2 gene have been reported to cause a lethal fibrotic cerebropulmonary disease termed fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA) syndrome in three Finnish children. Our objective was to determine the genetic basis of disease in a new patient with clinical features of FINCA syndrome using whole-exome sequencing (WES) and confirmation by Sanger sequencing. The patient has one known and one novel variant in NHLRC2 (c.442T>G, p.D148Y and c.428C>A, p.H143P, respectively). p.H143P is extremely rare and is not present in the gnomAD database of >140,000 allele sequences from healthy humans. Both variants affect the highly conserved N-terminal thioredoxin (Trx)-like domain of NHLRC2 and are predicted to be damaging. We conclude that a compound heterozygous combination of a known and a novel variant in NHLRC2 causes FINCA syndrome in a 2-year-old Ukrainian patient, underscoring the importance of NHLRC2 as a central regulator of fibrosis.
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