2016
DOI: 10.1002/pd.4925
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Intra-familial variability associated with recessive RYR1 mutation diagnosed prenatally by exome sequencing

Abstract: We show that recessive RYR1 mutations can be associated with significant intra-familial variability in clinical presentation which can complicate prediction of clinical outcome. RYR1 mutations can also cause diverse muscle pathologies which thwarts diagnosis. This study demonstrates the impact that exome-based diagnoses can have for families with lethal disorders. © 2016 John Wiley & Sons, Ltd.

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Cited by 14 publications
(14 citation statements)
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“…Ten of the 31 reports describe single cases and there were five small series of two to four cases . The larger studies of five or more cases present a range of inclusion criteria including termination of pregnancy or fetal demise with fetal anomalies, euploid fetuses with structural anomalies on ultrasound, increased nuchal translucency (NT) >3.5 mm, single or multiple fetal anomalies (Table ).…”
Section: Existing Prenatal Wes Studiesmentioning
confidence: 99%
“…Ten of the 31 reports describe single cases and there were five small series of two to four cases . The larger studies of five or more cases present a range of inclusion criteria including termination of pregnancy or fetal demise with fetal anomalies, euploid fetuses with structural anomalies on ultrasound, increased nuchal translucency (NT) >3.5 mm, single or multiple fetal anomalies (Table ).…”
Section: Existing Prenatal Wes Studiesmentioning
confidence: 99%
“…Mutations in these channels have been linked to the pharmacogenetic condition of malignant hyperthermia, to hypokalemic periodic paralysis, and to a spectrum of myopathies [ 22 ]. The often prenatal onset of the latter [ 23 ] implies important functions of the two Ca 2+ channels in myogenesis.…”
Section: Introductionmentioning
confidence: 99%
“…In these patients decreased fetal movements, arthrogryposis multiplex congenita (AMC), polyhydramnios, scoliosis and respiratory distress are typically observed [1,[3][4]19]. Recently, several cases with a lethal neonatal course have been documented [20], some of those within the spectrum of the "lethal multiple pterygium syndrome" [5]. Intrafamilial phenotypic variability has been reported in several families affected by such severe presentations [4,20].…”
Section: Introductionmentioning
confidence: 99%
“…Recently, several cases with a lethal neonatal course have been documented [20], some of those within the spectrum of the "lethal multiple pterygium syndrome" [5]. Intrafamilial phenotypic variability has been reported in several families affected by such severe presentations [4,20].…”
Section: Introductionmentioning
confidence: 99%