{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"contact_person":["Carmen Ayuso"],"full_dataset_link":["https://ega-archive.org/dacs/EGAC00001002010"],"host":["EGA"],"description":["EGA DAC EGAC00001002010"],"repository":["EGA"],"email":["cayuso@fjd.es"],"pubmed_abstract":["Inherited retinal diseases (IRDs), defined by dysfunction or progressive loss of photoreceptors, are disorders characterized by elevated heterogeneity, both at the clinical and genetic levels. Our main goal was to address the genetic landscape of IRD in the largest cohort of Spanish patients reported to date. A retrospective hospital-based cross-sectional study was carried out on 6089 IRD affected individuals (from 4403 unrelated families), referred for genetic testing from all the Spanish autonomous communities. Clinical, demographic and familiar data were collected from each patient, including family pedigree, age of appearance of visual symptoms, presence of any systemic findings and geographical origin. Genetic studies were performed to the 3951 families with available DNA using different molecular techniques. Overall, 53.2% (2100/3951) of the studied families were genetically characterized, and 1549 different likely causative variants in 142 genes were identified. The most common phenotype encountered is retinitis pigmentosa (RP) (55.6% of families, 2447/4403). The most recurrently mutated genes were PRPH2, ABCA4 and RS1 in autosomal dominant (AD), autosomal recessive (AR) and X-linked (XL) NON-RP cases, respectively; RHO, USH2A and RPGR in AD, AR and XL for non-syndromic RP; and USH2A and MYO7A in syndromic IRD. Pathogenic variants c.3386G > T (p.Arg1129Leu) in ABCA4 and c.2276G > T (p.Cys759Phe) in USH2A were the most frequent variants identified. Our study provides the general landscape for IRD in Spain, reporting the largest cohort ever presented. Our results have important implications for genetic diagnosis, counselling and new therapeutic strategies to both the Spanish population and other related populations."],"pubmed_title":["Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications."],"pubmed_authors":["Perea-Romero Irene I, Gordo Gema G, Iancu Ionut F IF, Del Pozo-Valero Marta M, Almoguera Berta B, Blanco-Kelly Fiona F, Carreño Ester E, Jimenez-Rolando Belen B, Lopez-Rodriguez Rosario R, Lorda-Sanchez Isabel I, Martin-Merida Inmaculada I, Pérez de Ayala Lucia L, Riveiro-Alvarez Rosa R, Rodriguez-Pinilla Elvira E, Tahsin-Swafiri Saoud S, Trujillo-Tiebas Maria J MJ, Garcia-Sandoval Blanca B, Minguez Pablo P, Avila-Fernandez Almudena A, Corton Marta M, Ayuso Carmen C"],"pubmed_title_synonyms":["genetic, familial, Balearic Islands., Canary Islands, inherited genetic, constitutitional genetic, hereditary, Dystrophy, Dystrophies, Retinal Dystrophy, Retinal"],"pubmed_abstract_synonyms":["Networks, Cross Sectional Analysis, SCR, Cross Sectional, dlmo, Antemortem Diagnosis, Materials, Kinship, DLMO, Rho A, MYOVIIA, Addresses, ARMD2, RS1, Genograms, Rod-cone dystrophy, Genealogical Tree, Usher syndrome, vart, Diagnosis, hdp-a, School-Age, dLmo, dLMO, DmelCG1004, diseases, NSRD2, rho-1, USH2, symptoms, Life Cycle, diseases and disorders, Genetic Predictive Testing, Gm983, DRho, Analysis, AAF01186, IRD, Tapetoretinal Degenerations, 8416, Cross-Sectional Surveys, Cross-Sectional Survey, Family Life Cycle, RP, RS, Dmrho, ird15, human disease, thymus nucleic acid, Predictive Genetic, Kinship Network, Genetic Predisposition, Analyses, STGD1, RDS - infants, hyaline Membrane disease, Retinitis pigmentosa autosomal recessive, ABCR, CG5467, DMRHO, ABC10, elevated, ird, Scrib, Genogram, Disease Frequency, rhoA, Pigmentary, Rs1h, RHO1, Rho1, genetic, DmelCG8416, Bd, Usherin, high frequency, CG31082, XLRS1, Dlmo, \"Retinitis pigmentosa (disorder)\" EXACT [SNOMEDCT_2005_07_31:28835009], rho1, Homo sapiens disease, retinoschisis X-linked, Double-Stranded DNA, fliH, deoxyribonucleic acids, Family Life Cycles, DNAn, REL, A930037M10Rik, Diagnose, Genetic Predictive, screening, Prevalence, Genetic Testing, Scrb, l(3)neo36, DmRHO-A, Rho-1, RHOb, familial, MENE (3R)-F, HSC0013, CG1004, rel, Double-Stranded, Genetic Screenings, DFNA11, results, Dm Rho1, Diagnoses, Trees, (Deoxyribonucleotide)n+m, rhom, type IIA, Screenings, RhoN19, Postmortem, Cross-Sectional Analyses, USHER syndrome, Cross-Sectional Study, School Age, RENBP, Examinations and Diagnoses, RhoA, Diseases, ve, Genetic Materials, RHOM, RhoM, scrb, MYU7A, \"Retinitis pigmentosa\" EXACT [MTHICD9_2006:362.74], Postmortem Diagnosis, Filiation, desoxyribose nucleic acid, 1700027M01Rik, RHOHP1, l(3)c00119, Family Tree, Genetic Material, Retinal, Dmel_CG31082, RP19, Ptd, Diagnoses and Examination, Cross Sectional Survey, Populations, Postmortem Diagnoses, l(2)k09514, D-Rho1, AI326383, Predisposition Testing, Ve, CG8416, signs, retinoschisis juvenile X chromosome-linked, common, Gm676, RELI, STGD, RHO, Rho, DMRHOa, Dmel_CG42614, DmelCG43398, Genealogical Trees, DMRHOb, AGE, loss of, Life Cycles, Genetic Identity, Phenotypes, Pigmentary Retinopathy, disease, DFNB2, Patient, rhomboid/veinlet, Material, ds DNA, retinoschisis 1, Lmo, LMO, Surveys, Cistron, ARHD, inherited genetic, hdp, School-Age Population, DNA, Disease Frequency Surveys, rho, juvenile retinoschisis, A930011D15Rik, RP39, other disease, Dmelrho, Retinopathies, ird4, Family Member, DNS, X-linked, Balearic Islands, NF-kappaB, (Deoxyribonucleotide)n, DRORHO, Family Trees, infant, cg2173, relish, respiratory distress syndrome, number, Goal, Arhd, Gene, Network, Identity, presence, Rho GTPase, Deoxyribonucleic acids, l(3)S042405, Prevalence Studies, Deoxyribonucleic Acid, tmgc1, DRhoA, Cross-Sectional Analysis, dttg, Studies, Mass, disease or disorder, Screening, DmRH21, Survey, Cross-Sectional, CG6500, Antemortem, juvenile, CG11992, DmelCG2173, study, School-Age Populations, dRhoA, Mush2a, Genetic, beadex/dLMO, infantile respiratory distress syndrome, Research, dysfunction, BcDNA:GM05306, Double Stranded, US2, Rp3h, Deoxyribonucleic acid, smi97B, Diagnoses and Examinations, DRho1, Population, IRDS, DrhoA, non-neoplastic, OPN2, Study, RhoHP1, Clients, Drs1, heterogeneity, Drho1, disorder, 153844_at, RMP, dRho1, (Deoxyribonucleotide)m, Kinship Networks, Xlrs1, NRDS, Predictive, School Age Population, constitutitional genetic, Family, high elevation, Genealogical, CORD3, DmelCG6500, Antemortem Diagnoses, Retinopathy, Disease, l(3)673, Rho kinase, findings, Family Research, pericentral pigmentary retinopathy, RnBP, FFM, DNAn+1, l(2)52Fa, iks, disorders, CG43398, Disease Frequency Survey, Canary Islands, Predictive Testing, GlcNAc 2-epimerase, medical condition, Tree, l(2)k02107b, CT17324, Rel-p110, Hospital, Cistrons, Client, Genetic Screening, Identities, Examination and Diagnoses, Cross Sectional Analyses, Testing, Family Members, XJR, count in organism, N-acetyl-D-glucosamine 2-epimerase, CG5462, Mass Screenings, 0424/05, condition, Genealogic, Retinal Disease, ds-DNA, dnRho, NFkappaB, School Age Populations., Predictive Genetic Testing, \"RP\" EXACT [CSP2005:1114-9526], Dmel_CG5462, DmelCG11992, frequent, USH1B, type 2A, dJ1111A8.1, \"Retinitis pigmentosa\" EXACT [SNOMEDCT_2005_07_31:155113002], X-linked juvenile retinoschisis 1, E3.10/J3.8, patient, pathophysiology, Dmel_CG5467, OTTMUSG00000010365, Genetic Identities, Genetic Predisposition Testing, hld, l(3)j7B3, Genealogic Tree, Genealogic Trees, \"retinitis pigmentosa-1\" EXACT [], CG42614, Families, CG2173, USH2A, Desoxyribonukleinsaeure, renin-binding protein, Rs1, Cross Sectional Studies, Scb, Tapetoretinal Degeneration, hereditary, Rel/NF-kappaB, Relatives, n(2)k07236, Prevalence Study, Pigmentary Retinopathies, formerly"],"additional_accession":[]},"is_claimable":false,"name":"IIS - Fundacion Jimenez Diaz Data Access Committee","description":"Data Access Committee EGAC00001002010","dates":{"output":"2025-1-9"},"accession":"EGAC00001002010","cross_references":{"TAXONOMY":["9606"],"pubmed":["33452396"],"EGA":["EGAS00001005104","EGAD00001007022"]}}