De novo mutations of SCN1A are responsible for arthrogryposis broadening the SCN1A-related phenotypes

Arthrogryposis multiplex congenita (AMC) is characterized by congenital joint contractures due to reduced fetal movements and includes a large spectrum of diseases.

We show for the first time that de novo SCN1A variants are responsible for AMC indicating a critical role of SCN1A in motor development. SCN1A encodes a component of sodium channels which underlie action potential generation and propagation. Our data enlarge the spectrum of SCN1A-related phenotypes ranging from epileptic encephalopathy to AMC.

Variants in genes encoding two other channels are responsible for AMC due to central nervous system involvement indicating a critical role of these channels in motor development. (By Professor Judith Melki, https://jmg.bmj.com/content/early/2020/09/13/jmedgenet-2020-107166 )

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