Expanding the Molecular and Clinical Phenotype of SSR4-CDG.
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ABSTRACT:
SUBMITTER: Ng BG
PROVIDER: S-EPMC4604052 | biostudies-literature | 2015 Nov
REPOSITORIES: biostudies-literature
Publications
Expanding the Molecular and Clinical Phenotype of SSR4-CDG.
Ng Bobby G BG Raymond Kimiyo K Kircher Martin M Buckingham Kati J KJ Wood Tim T Shendure Jay J Nickerson Deborah A DA Bamshad Michael J MJ Wong Jonathan T S JT Monteiro Fabiola Paoli FP Graham Brett H BH Jackson Sheryl S Sparkes Rebecca R Scheuerle Angela E AE Cathey Sara S Kok Fernando F Gibson James B JB Freeze Hudson H HH
Human mutation 20150827 11
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 glyco ...[more]
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