Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/355986
Type: Artigo
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: Deficiência intelectual
Glicosilação
Retículo endoplasmático
Country: Estados Unidos
Editor: Wiley
Rights: Fechado
Identifier DOI: 10.1002/humu.22856
Address: https://onlinelibrary.wiley.com/doi/epdf/10.1002/humu.22856
Date Issue: 2015
Appears in Collections:FCM - Artigos e Outros Documentos

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