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Genetic and in silico functional characterization of a novel structural variant in the PAH gene by long-reads sequencing and structural modeling

IntroductionPhenylketonuria (PKU) is an inherited metabolic disorder caused by biallelic variants in the PAH gene, leading to phenylalanine accumulation and progressive neuronal damage. Over 3,000 variants have been described worldwide; however, a previously unreported exon duplication was identifie...

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Principais autores: Viviana Gallardo, Alexis Gaete, Jonathan Maldonado, Paulina Morales, Angela Peña, Valerie Hamilton, Víctor Faundes, Lorena Santa María
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2025-09-01
coleção:Frontiers in Genetics
Assuntos:
phenylketonuria (PKU)
PAH gene
CRISPR/Cas9
Oxford nanopore sequencing (ONT)
exon duplication
protein modeling
Acesso em linha:https://www.frontiersin.org/articles/10.3389/fgene.2025.1669007/full
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