Novel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report

Novel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report

Congenital disorders of glycosylation (CDG) are a rapidly growing family of genetic diseases with the phosphomannomutase 2 (PMM2)-CDG being the most common form of CDG. Most of these monogenic diseases are autosomal recessive and have multi-systemic manifestations, mainly psychomotor retardation, fa...

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Bibliographic Details
Main Authors: Katerina Slaba, Hana Noskova, Petra Vesela, Jana Tuckova, Hana Jicinska, Tomas Honzik, Hana Hansikova, Petra Kleiblova, Petr Stourac, Petr Jabandziev, Ondrej Slaby, Dagmar Prochazkova
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-10-01
Series:Frontiers in Genetics
Subjects:
PMM2-CDG
pericardial effusion
whole exome sequencing
novel splicing variant
phosphomannomutase 2
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2020.561054/full

Internet

https://www.frontiersin.org/article/10.3389/fgene.2020.561054/full

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