ArticleNPJ genomic medicine2025
LMX1B haploinsufficiency due to variants in the 5'UTR as a cause of Nail-Patella syndrome.
Article in NPJ genomic medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- Non-coding genome in nail-patella syndrome: Genetic diagnosis as a guide for personalized follow-up.European journal of human genetics : EJHG · 2026Article
- uAUG-creating variant in the LDLR gene causes mild Familial hypercholesterolemia.Human genetics · 2025Article
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Authors and funding
12 authors.
Funding
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Abstract
Nail-Patella syndrome (NPS) is a rare autosomal dominant condition due to haploinsufficiency of LMX1B, caused by loss-of-function variants affecting the coding sequence, or partial/whole deletions of the gene. In here, we describe two familial cases of NPS, carrying novel variants of the LMX1B 5'UTR region (-174C>T and -226G>A). To verify their pathogenic role, we carried out a functional characterization, both by reporter gene assays in heterologous systems and in patient's derived cells. We demonstrated that both variants impair LMX1B expression at post-transcriptional level. They introduce two upstream open reading frames (uORFs), out-of-frame with the main LMX1B coding sequence, generating transcripts detected by the non-sense mediated decay (NMD). We also demonstrated that the escape of the altered mRNA from NMD, if any, may lead to the synthesis of an aberrant LMX1B protein.
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