EVAapplication/xmlftp://ftp.ebi.ac.uk/pub/databases/eva/PRJEB65722/191147-WGS.dragen.cnv.vcf.gzftp://ftp.ebi.ac.uk/pub/databases/eva/PRJEB65722/191147-WGS.dragen.cnv.vcf.gz.csiftp://ftp.ebi.ac.uk/pub/databases/eva/PRJEB65722/191147-WGS.dragen.cnv.vcf.csiprimaryOK200Whole Genome SequencingGenomicsHospital Universitari de BellvitgeIllumina NovaSeq 6000Homo Sapienshttps://www.ebi.ac.uk/eva/?eva-study=PRJEB65722EVAd-FXN, i-FXN, Frataxin intermediate form, Materials, Frda, Genetic, m81-FXN, CyaY, Gene, INSDC_feature:gene, X25, Frataxin(81-210), FARR, Cistrons, Frataxin mature form, Frataxin(78-210), FRDA, DEL, Material, Frataxin(56-210), 1.16.3.1, m78-FXN, Friedreich ataxia protein, Genetic Materials, Cistron, Genetic Material., FA, m56-FXN, FxnFriedreich ataxia with retained reflexes, i-FXN, Frataxin intermediate form, Materials, determination, region or site annotation, Feature, CyaY, Intervening Sequences, familial, UTR, Mini Exon, Gene, Progress Reports, hereditary spinal ataxia, X25, Frataxin(81-210), FARR, Cistrons, Client, Frataxin mature form, Sequences, Intervening Sequence, Frataxin(78-210), Characteristic, Investigative, INSDC_feature:intron, Investigative Report, untranslated region, Sequence, Summary Report, Frataxin(56-210), Research Reports, chemical analysis, Mini-Exon, sequence, Friedreich ataxia protein, Genetic Materials, Hereditary ataxia-Friedreich’s type, Summary Reports, FA, m56-FXN, spinocerebellar ataxia, Fxn, positional, d-FXN, Friedreich, Friedreich's tabes, Frda, positional polypeptide feature, Genetic, Progress Report, m81-FXN, Mini-Exons, Field, Exon, common, patient, INSDC_feature:gene, UTR2, Features, Intervening, sample population, primary structure of sequence macromolecule, genetic, Progress, GPR14, UR-2-R, geographical area, Report, Field Reports, FRDA, Reports, Patient, DEL, Material, Clients, sample, 1.16.3.1, Friedreich's ataxia, m78-FXN, Gpr14, Cistron, inherited genetic, Intron, Characteristics, assay, Genetic Material., Investigative Reports, Summary, constitutitional genetic, hereditary, hereditary spinal sclerosis, Field ReportfalseIdentification of a novel deletion on FXN geneWe 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.2023-09-03PRJEB657229606