Expanding the Molecular and Clinical Phenotype of SSR4-CDG
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Citações na Scopus
22
Tipo de produção
article
Data de publicação
2015
Editora
WILEY-BLACKWELL
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Título do Volume
Autores
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
Autor de Grupo de pesquisa
Univ Washington Ctr Mendelian Geno
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Citação
HUMAN MUTATION, v.36, n.11, p.1048-1051, 2015
Resumo
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.
Palavras-chave
congenital disorders of glycosylation, signal sequence receptor 4, SSR4, translocon complex, carbohydrate-deficient transferrin
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