Autosomal recessive PGM3 mutations cause a new Congenital Disorder of Glycosylation

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.]]>
Patient samples were chosen for inclusion in the project based on the following criteria: Families who had similar syndromic features were studied Patients, parents and healthy family members were selected DNA was available for use in exome sequencing Informed consent documentation was available ]]>