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Identification of a novel deletion on FXN gene

ABSTRACT: We report 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 FXN gene.

INSTRUMENT(S): Illumina NovaSeq 6000

ORGANISM(S): Homo Sapiens

SUBMITTER: Hospital Universitari de Bellvitge

PROVIDER: PRJEB65722 | EVA | 2023-09-03

REPOSITORIES: EVA

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			Action	DRS
	191147-WGS.dragen.cnv.vcf.csi	Other
	191147-WGS.dragen.cnv.vcf.gz	Vcf
	191147-WGS.dragen.cnv.vcf.gz.csi	Vcf

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