A novel homozygous splice‐site mutation in RYR1 causes fetal hydrops and affects skeletal and smooth muscle development

What's already known about this topic? Mutations in the RYR1 gene can cause variable phenotypes including autosomal dominant malignant hyperthermia, multi‐minicore disease, core‐rod myopathy and autosomal recessive lethal multiple pterygium syndrome at the severe end of the spectrum. What does...

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Bibliographic Details
Published in:Prenatal diagnosis 2017-07, Vol.37 (7), p.720-724
Main Authors: Meier, Nicole, Bruder, Elisabeth, Filges, Isabel
Format: Article
Language:English
Subjects:
Edema
Female
Fetal Death
Fetuses
Gestational Age
Homozygote
Humans
Hydrops Fetalis - genetics
Hydrops Fetalis - pathology
Hyperthermia
Malignant hyperthermia
Muscle Development - genetics
Muscle Development - physiology
Muscle, Skeletal - embryology
Muscle, Skeletal - growth & development
Muscle, Smooth - embryology
Muscle, Smooth - growth & development
Mutation
Myopathy
Panels
Pregnancy
RNA Splice Sites - genetics
Ryanodine Receptor Calcium Release Channel - genetics
Ryanodine Receptor Calcium Release Channel - physiology
Ryanodine receptors
Skeletal muscle
Smooth muscle
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Summary:What's already known about this topic? Mutations in the RYR1 gene can cause variable phenotypes including autosomal dominant malignant hyperthermia, multi‐minicore disease, core‐rod myopathy and autosomal recessive lethal multiple pterygium syndrome at the severe end of the spectrum. What does this study add? Autosomal recessive mutations in RYR1 cause non‐immune fetal hydrops more often than previously thought. These mutations affect skeletal muscle development but also impact smooth muscle tissue in early human development. RYR1 should be added to sequencing panels in prenatal diagnostics.
ISSN:0197-3851
1097-0223
DOI:10.1002/pd.5073