| Literature DB >> 35581417 |
Francesco Nicita1, Fabrizia Stregapede2, Federica Deodato3, Simone Pizzi4, Simone Martinelli5, Daria Pagliara6, Chiara Aiello2, Francesca Cumbo2, Fiorella Piemonte2, Jessica D'Amico2, Stefano Pro7, Daniela Longo8, Silvia Genovese9, Marco Tartaglia4, Maria L Escolar10, Enrico Bertini2, Lorena Travaglini11.
Abstract
Krabbe disease (KD) is a rare lysosomal storage disorder caused by biallelic pathogenic variants in GALC. Most patients manifest the severe classic early-infantile form, while a small percentage of cases have later-onset types. We present two siblings with atypical clinical and neuroimaging phenotypes, compared to the classification of KD, who were found to carry biallelic loss-of-function GALC variants, including a recurrent 30 kb deletion and a previously unreported deep intronic variant that was identified by mRNA sequencing. This family represents a unique description in the KD literature and contributes to expanding the clinical and molecular spectra of this rare disorder.Entities:
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Year: 2022 PMID： 35581417 PMCID： PMC9349273 DOI： 10.1038/s41431-022-01111-z
Source DB: PubMed Journal: Eur J Hum Genet ISSN： 1018-4813 Impact factor: 5.351