Article

Exon-skipping and genetic compensation due to biallelic mutations in the neurodevelopmental disease gene <i>LNPK</i>

2025-06-02

Abstract excerpt

Homozygous loss-of-function mutations in LNPK , the gene encoding the endoplasmic reticulum-associated protein lunapark, have previously been linked to an autosomal recessive neurodevelopmental syndrome. Here, we describe an individual harboring compound heterozygous predicted splice site mutations with an overall matching phenotype. In cultured fibroblasts, these mutations result in a dearth of transcript and se...

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Literature Corpus work: 35e38de5-6b85-517a-9f3a-979f16526bca
DOI: 10.1101/2025.05.30.656906

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