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A novel homozygous splice‐site mutation in RYR1 causes fetal hydrops and affects skeletal and smooth muscle development
Author(s) -
Meier Nicole,
Bruder Elisabeth,
Filges Isabel
Publication year - 2017
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.5073
Subject(s) - ryr1 , congenital myopathy , malignant hyperthermia , myopathy , skeletal muscle , biology , compound heterozygosity , mutation , genetics , nemaline myopathy , phenotype , fetus , gene , pathology , medicine , muscle biopsy , anatomy , biopsy , pregnancy , ryanodine receptor , intracellular
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.