Search results for " Gain-of-function mutation"

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Distal Arthrogryposis type 5 in an Italian family due to an autosomal dominant gain-of-function mutation of the PIEZO2 gene

2022

Abstract Background Arthrogryposis multiplex congenita (AMC) is a group of clinically and etiologically heterogeneous conditions, characterized by prenatal onset contractures affecting two or more joints. Its incidence is about 1 in 3000 live births. AMC may be distinguished into amyoplasia, distal and syndromic arthrogryposis. Distal arthrogryposis (DA) predominantly affects hands and feet. It is currently divided into more than ten subtypes (DA1, DA2A/B, DA3–10), based on clinical manifestations, gene mutations and inheritance pattern. Among them, only a few patients with DA5 have been reported. It is associated to a gain-of-function pathogenic variant of the PIEZO2 gene, encoding for an …

ArthrogryposisContractureOphthalmoplegiaArthrogryposis multiplex congenita Case report DA5 Gain-of-function mutation NGS Ophthalmoplegia PIEZO2 gene Gain of Function Mutation Humans Infant Newborn Inheritance Patterns Ion Channels Mutation Pedigree Retinal Diseases Arthrogryposis Contracture OphthalmoplegiaRetinal DiseasesGain of Function MutationMutationInfant NewbornInheritance PatternsHumansGeneral MedicineIon ChannelsPedigreeItalian Journal of Pediatrics
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