Eleven percent intact PGM3 in a severely immunodeficient patient with a novel splice-site mutation, a case report

BMC Pediatrics
Karin E LundinC I Edvard Smith

Abstract

A novel immunodeficiency, frequently accompanied by high serum-IgE, and caused by mutations in the PGM3 gene was described in 2014. To date there are no unique phenotype characteristics for PGM3 deficiency. PGM3 encodes a carbohydrate-modifying enzyme, phosphoglucomutase 3. Null-mutations are quite likely lethal, and to date only missense mutations or small deletions have been reported. Such mutations frequently cause a combination of reduced enzyme activity and protein instability, complicating determination of the enzyme level needed for survival. Here we present the first patient with a homozygous splice-modifying mutation in the PGM3 gene. An A > G substitution at position c.871 + 3 (transcript NM_001199917) is causing a deletion of exon 7 in the majority of PGM3 transcripts. In addition, this case further increases the clinical phenotypes of immunodeficiency caused by PGM3 mutations. We describe the symptoms of a 3-year-old girl who was severely growth retarded, had vascular malformations, extensive eczema, multiple food-allergies, and was prone to infections. Unlike the majority of reported PGM3 deficient patients she lacked skeletal dysplasia and had normal neurocognitive development. In addition to the high serum-IgE, s...Continue Reading

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Citations

May 17, 2019·Journal of Inherited Metabolic Disease·Carlota PascoalPaula A Videira
Jun 25, 2019·European Journal of Human Genetics : EJHG·Jaak JaekenGert Matthijs
Apr 3, 2020·Immunological Reviews·Peter J McGuire
Oct 25, 2020·Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology·Ana García-GarcíaLaia Alsina

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Methods Mentioned

BETA
glycosylation
PCR
PCRs

Software Mentioned

Scout
Polyphen
ClinVar
SIFT
Mutation Identification Pipeline , MIP

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