Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/242590
Type: Artigo de periódico
Title: Expanding The Molecular And Clinical Phenotype Of Ssr4-cdg
Author: Ng
Bobby G.; Raymond
Kimiyo; Kircher
Martin; Buckingham
Kati J.; Wood
Tim; Shendure
Jay; Nickerson
Deborah A.; Bamshad
Michael J.; Wong
Jonathan T. S.; Monteiro
Fabiola Paoli; Graham
Brett H.; Jackson
Sheryl; Sparkes
Rebecca; Scheuerle
Angela E.; Cathey
Sara; Kok
Fernando; Gibson
James B.; Freeze
Hudson H.
Abstract: Congenital 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.
Subject: Congenital Disorders
Endoplasmic-reticulum
Mental-retardation
Glycosylation
Mutations
Membrane
Trap
Protein
Complex
Gene
Country: HOBOKEN
Editor: WILEY-BLACKWELL
Citation: Expanding The Molecular And Clinical Phenotype Of Ssr4-cdg. Wiley-blackwell, v. 36, p. 1048-1051 NOV-2015.
Rights: fechado
Identifier DOI: 10.1002/humu.22856
Address: http://onlinelibrary.wiley.com/doi/10.1002/humu.22856/epdf
Date Issue: 2015
Appears in Collections:Unicamp - Artigos e Outros Documentos

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