A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita-Characterization Using Urine-Derived Cells
Lauren Kerr1,2, Paul McKay1,2, Juliana Marulanda1,3
1Shriners Hospital for Children, Montreal, Canada.
Summary
This study identifies a new ERGIC1 gene variant causing arthrogryposis multiplex congenita (AMC). RNA analysis revealed a splice defect, expanding the genetic causes of this rare congenital disorder.
Area of Science:
- Genetics
- Developmental Biology
- Molecular Medicine
Background:
- Arthrogryposis multiplex congenita (AMC) is characterized by congenital joint contractures.
- Several ERGIC1 gene variants have been previously linked to AMC.
- Diagnostic challenges exist for variants of uncertain significance.
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