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Autosomal recessive PGM3 mutations cause a new Congenital Disorder of Glycosylation

ABSTRACT:

To define a genetic syndrome of severe atopy, elevated serum IgE, immune deficiency, autoimmunity, and motor and neurocognitive impairment, eight patients from two families who had similar syndromic features were studied. Whole exome sequencing was performed to identify disease-causing mutations. A disease segregated with a novel autosomal recessive mutations in a single gene, phosphoglucomutase 3 (PGM3). The result defines a new Congenital Disorder of Glycosylation.

PROVIDER: phs000809 | dbGaP |

SECONDARY ACCESSION(S): PRJNA262959PRJNA262960

REPOSITORIES: dbGaP

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