Expanding the Molecular and Clinical Phenotype of SSR4-CDG

University of Washington Center for Mendelian Genomics

Research output: Contribution to journalArticle

7 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)1048-1051
Number of pages4
JournalHuman mutation
Volume36
Issue number11
DOIs
StatePublished - Nov 2015

Keywords

  • Carbohydrate-deficient transferrin
  • Congenital disorders of glycosylation
  • SSR4
  • Signal sequence receptor 4
  • Translocon complex

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    University of Washington Center for Mendelian Genomics (2015). Expanding the Molecular and Clinical Phenotype of SSR4-CDG. Human mutation, 36(11), 1048-1051. https://doi.org/10.1002/humu.22856