Expanding The Molecular And Clinical Phenotype Of Ssr4-cdg.

dc.creatorNg, Bobby G
dc.creatorRaymond, Kimiyo
dc.creatorKircher, Martin
dc.creatorBuckingham, Kati J
dc.creatorWood, Tim
dc.creatorShendure, Jay
dc.creatorNickerson, Deborah A
dc.creatorBamshad, Michael J
dc.creator,
dc.creatorWong, Jonathan T S
dc.creatorMonteiro, Fabiola Paoli
dc.creatorGraham, Brett H
dc.creatorJackson, Sheryl
dc.creatorSparkes, Rebecca
dc.creatorScheuerle, Angela E
dc.creatorCathey, Sara
dc.creatorKok, Fernando
dc.creatorGibson, James B
dc.creatorFreeze, Hudson H
dc.date2015-Nov
dc.date2016-05-23T19:41:20Z
dc.date2016-05-23T19:41:20Z
dc.date.accessioned2018-03-29T01:28:51Z
dc.date.available2018-03-29T01:28:51Z
dc.identifierHuman Mutation. v. 36, n. 11, p. 1048-1051, 2015-Nov.
dc.identifier1098-1004
dc.identifier10.1002/humu.22856
dc.identifierhttp://www.ncbi.nlm.nih.gov/pubmed/?term=26264460
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/235517
dc.identifier26264460
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1303760
dc.descriptionCongenital disorders of glycosylation (CDG) are a group of mostly autosomal recessive disorders primarily characterized by neurological abnormalities. Recently, we described a single CDG patient with a de novo mutation in the X-linked gene, Signal Sequence Receptor 4 (SSR4). We performed whole-exome sequencing to identify causal variants in several affected individuals who had either an undifferentiated neurological disorder or unsolved CDG of unknown etiology based on abnormal transferrin glycosylation. We now report eight affected males with either de novo (4) or inherited (4) loss of function mutations in SSR4. Western blot analysis revealed that the mutations caused a complete loss of SSR4 protein. In nearly all cases, the abnormal glycosylation of serum transferrin was only slightly above the accepted normal cutoff range.
dc.description36
dc.description1048-1051
dc.languageeng
dc.relationHuman Mutation
dc.relationHum. Mutat.
dc.rightsembargo
dc.sourcePubMed
dc.subjectSsr4
dc.subjectCarbohydrate-deficient Transferrin
dc.subjectCongenital Disorders Of Glycosylation
dc.subjectSignal Sequence Receptor 4
dc.subjectTranslocon Complex
dc.titleExpanding The Molecular And Clinical Phenotype Of Ssr4-cdg.
dc.typeArtículos de revistas


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