Novel intragenic deletion within the FXN gene in a patient with typical phenotype of Friedreich ataxia: may be more prevalent than we think?

Autor: Aguilera, Cinthia, Esteve-Garcia, Anna, Casasnovas, Carlos, Vélez-Santamaria, Valentina, Rausell, Laura, Gargallo, Pablo, Garcia-Planells, Javier, Alía, Pedro, Llecha, Núria, Padró-Miquel, Ariadna
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Zdroj: BMC Medical Genomics; 12/1/2023, Vol. 16 Issue 1, p1-6, 6p
Abstrakt: Background: Friedreich ataxia is the most common inherited ataxia in Europe and is mainly caused by biallelic pathogenic expansions of the GAA trinucleotide repeat in intron 1 of the FXN gene that lead to a decrease in frataxin protein levels. Rarely, affected individuals carry either a large intragenic deletion or whole-gene deletion of FXN on one allele and a full-penetrance expanded GAA repeat on the other allele. Case presentation: We report here a patient that presented the typical clinical features of FRDA and genetic analysis of FXN intron 1 led to the assumption that the patient carried the common biallelic expansion. Subsequently, parental sample testing led to the identification of a novel intragenic deletion involving the 5'UTR upstream region and exons 1 and 2 of the FXN gene by MLPA. Conclusions: With this case, we want to raise awareness about the potentially higher prevalence of intragenic deletions and underline the essential role of parental sample testing in providing accurate genetic counselling. [ABSTRACT FROM AUTHOR]
Databáze: Complementary Index
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