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dc.contributor.authorEsperón Moldes, Uxía Saraiva
dc.contributor.authorGinarte Val, Manuel Javier 
dc.contributor.authorRodriguez-Pazos, L
dc.contributor.authorFachal Vilar, Laura
dc.contributor.authorMartin-Santiago, A
dc.contributor.authorVicente, A
dc.contributor.authorJimenez-Gallo, D
dc.contributor.authorGuillen-Navarro, E
dc.contributor.authorSampol, LM
dc.contributor.authorGonzalez-Ensenat, MA
dc.contributor.authorVega Gliemmo, Ana
dc.date.accessioned2022-05-24T12:15:47Z
dc.date.available2022-05-24T12:15:47Z
dc.date.issued2020
dc.identifier.issn1932-6203
dc.identifier.otherhttps://www.ncbi.nlm.nih.gov/pubmed/32069299es
dc.identifier.urihttp://hdl.handle.net/20.500.11940/16843
dc.description.abstractMutations in CYP4F22 cause autosomal recessive congenital ichthyosis (ARCI). However, less than 10% of all ARCI patients carry a mutation in CYP4F22. In order to identify the molecular basis of ARCI among our patients (a cohort of ninety-two Spanish individuals) we performed a mutational analysis using direct Sanger sequencing in combination with a multigene targeted NGS panel. From these, eight ARCI families (three of them with Moroccan origin) were found to carry five different CYP4F22 mutations, of which two were novel. Computational analysis showed that the mutations found were present in highly conserved residues of the protein and may affect its structure and function. Seven of the eight families were carriers of a highly recurrent CYP4F22 variant, c.1303C>T; p.(His435Tyr). A 12Mb haplotype was reconstructed in all c.1303C>T carriers by genotyping ten microsatellite markers flanking the CYP4F22 gene. A prevalent 2.52Mb haplotype was observed among Spanish carrier patients suggesting a recent common ancestor. A smaller core haplotype of 1.2Mb was shared by Spanish and Moroccan families. Different approaches were applied to estimate the time to the most recent common ancestor (TMRCA) of carrier patients with Spanish origin. The age of the mutation was calculated by using DMLE and BDMC2. The algorithms estimated that the c.1303C>T variant arose approximately 2925 to 4925 years ago, while Spanish carrier families derived from a common ancestor who lived in the XIII century. The present study reports five CYP4F22 mutations, two of them novel, increasing the number of CYP4F22 mutations currently listed. Additionally, our results suggest that the recurrent c.1303C>T change has a founder effect in Spanish population and c.1303C>T carrier families originated from a single ancestor with probable African ancestry.en
dc.rightsAtribución 4.0 Internacional
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.subject.meshMiddle Aged*
dc.subject.meshHumans*
dc.subject.meshIchthyosis*
dc.subject.meshHaplotypes*
dc.subject.meshPedigree*
dc.subject.meshStructure-Activity Relationship*
dc.subject.meshPhenotype*
dc.subject.meshCytochrome P-450 Enzyme System*
dc.subject.meshAmino Acid Substitution*
dc.subject.meshProtein Conformation*
dc.subject.meshAlleles*
dc.titleNovel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutationen
dc.typeJournal Articlees
dc.authorsophosEsperon-Moldes, U Ginarte-Val, M Rodriguez-Pazos, L Fachal, L Martin-Santiago, A Vicente, A Jimenez-Gallo, D Guillen-Navarro, E Sampol, LM Gonzalez-Ensenat, MA Vega, A
dc.identifier.doi10.1371/journal.pone.0229025
dc.identifier.pmid32069299
dc.identifier.sophos41972
dc.issue.number2es
dc.journal.titlePLoS Onees
dc.organizationServizo Galego de Saúde::Dirección Xeral de Asistencia Sanitaria::Fundación Pública Galega de Medicina Xenómicaes
dc.organizationServizo Galego de Saúde::Estrutura de Xestión Integrada (EOXI)::EOXI de Santiago de Compostela - Complexo Hospitalario Universitario de Santiago de Compostela::Dermatoloxíaes
dc.rights.accessRightsopenAccess
dc.subject.decsfenotipo*
dc.subject.decssistema enzimático del citocromo P-450*
dc.subject.decsmediana edad*
dc.subject.decshumanos*
dc.subject.decsrelación estructura-actividad*
dc.subject.decslinaje*
dc.subject.decshaplotipos*
dc.subject.decsalelos*
dc.subject.decsconformación de proteínas*
dc.subject.decsictiosis*
dc.subject.decssustitución de aminoácidos*
dc.subject.keywordFPGMXes
dc.subject.keywordCHUSes
dc.typefidesArtículo Originales
dc.typesophosArtículo Originales
dc.volume.number15es


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