Clinical And Molecular Characterization Of A Brazilian Cohort Of Campomelic Dysplasia Patients, And Identification Of Seven New Sox9 Mutations

dc.creatorMattos
dc.creatorEduardo P.; Sanseverino
dc.creatorMaria Teresa V.; Magalhaes
dc.creatorJose Antonio A.; Leite
dc.creatorJulio Cesar L.; Felix
dc.creatorTemis Maria; Todeschini
dc.creatorLuiz Alberto; Cavalcanti
dc.creatorDenise P.; Schueler-Faccini
dc.creatorLavinia
dc.date2015
dc.date2016-06-07T13:32:33Z
dc.date2016-06-07T13:32:33Z
dc.date.accessioned2018-03-29T01:48:19Z
dc.date.available2018-03-29T01:48:19Z
dc.identifier
dc.identifierClinical And Molecular Characterization Of A Brazilian Cohort Of Campomelic Dysplasia Patients, And Identification Of Seven New Sox9 Mutations. Soc Brasil Genetica, v. 38, p. 14-20 2015.
dc.identifier1415-4757
dc.identifierWOS:000352448600003
dc.identifier10.1590/S1415-475738120140147
dc.identifierhttp://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572015000100014&lng=en&nrm=iso&tlng=en
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/243480
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1307178
dc.descriptionConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
dc.descriptionCampomelic dysplasia (CD) is an autosomal, dominantly inherited, skeletal abnormality belonging to the subgroup of bent bone dysplasias. In addition to bowed lower limbs, CD typically includes the following: disproportionate short stature, flat face, micrognathia, cleft palate, bell-shaped thorax, and club feet. Up to three quarters of 46, XY individuals may be sex-reversed. Radiological signs include scapular and pubic hypoplasia, narrow iliac wings, spaced ischia, and bowed femora and tibiae. Lethal CD is usually due to heterozygous mutations in SOX9, a major regulator of chondrocytic development. We present a detailed clinical and molecular characterization of nine Brazilian CD patients. Infants were either stillborn (n = 2) or died shortly after birth and presented similar phenotypes. Sex-reversal was observed in one of three chromosomally male patients. Sequencing of SOX9 revealed new heterozygous mutations in seven individuals. Six patients had mutations that resulted in premature transcriptional termination, while one infant had a single-nucleotide substitution at the conserved splice-site acceptor of intron 1. No clear genotype- phenotype correlations were observed. This study highlights the diversity of SOX9 mutations leading to lethal CD, and expands the group of known genetic alterations associated with this skeletal dysplasia.
dc.description38
dc.description1
dc.description
dc.description14
dc.description20
dc.descriptionGrupo de Pesquisa e Pos-Graduacao do Hospital de Clinicas de Porto Alegre [12-0467]
dc.descriptionConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
dc.descriptionConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
dc.descriptionCNPq [402008/2010-3, 590148/2011-7]
dc.description
dc.description
dc.description
dc.languageen
dc.publisherSOC BRASIL GENETICA
dc.publisher
dc.publisherRIBEIRAO PRET
dc.relationGENETICS AND MOLECULAR BIOLOGY
dc.rightsfechado
dc.sourceWOS
dc.subjectAutosomal Sex Reversal
dc.subjectSry-related Gene
dc.subjectNonsense Mutation
dc.subjectTranscriptional Activation
dc.subject1st Trimester
dc.subjectDna-binding
dc.subjectUpstream
dc.subjectDeletion
dc.subjectPhenotype
dc.subjectSequence
dc.titleClinical And Molecular Characterization Of A Brazilian Cohort Of Campomelic Dysplasia Patients, And Identification Of Seven New Sox9 Mutations
dc.typeArtículos de revistas


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