Autosomal Recessive PGM3 Mutations Link Glycosylation Defects to Atopy, Immune Deficiency, Autoimmunity, and Neurocognitive Impairment

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.

• Study Design:
  • Family/Twin/Trios
• Study Type:
  • Parent-Offspring Trios
• Total number of consented subjects: 8
• Subject Sample Telemetry Report (SSTR)

Patient samples were chosen for inclusion in the project based on the following criteria:

1. Families who had similar syndromic features were studied
2. Patients, parents and healthy family members were selected
3. DNA was available for use in exome sequencing
4. Informed consent documentation was available

• Primary Phenotype: Congenital Disorders of Glycosylation

• BioProject
• PubMed
• BioSample
• MeSH
• PMC

• Principal Investigators
  • Josh Milner. National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
  • Helen Su. National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
• Funding Source
  • 1ZIAAI001059-07. National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.