Search results for "Arthrogryposis multiplex congenita"

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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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Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenital

2022

BackgroundArthrogryposis multiplex congenita (AMC) is characterised by congenital joint contractures in two or more body areas. AMC exhibits wide phenotypic and genetic heterogeneity. Our goals were to improve the genetic diagnosis rates of AMC, to evaluate the added value of whole exome sequencing (WES) compared with targeted exome sequencing (TES) and to identify new genes in 315 unrelated undiagnosed AMC families.MethodsSeveral genomic approaches were used including genetic mapping of disease loci in multiplex or consanguineous families, TES then WES. Sanger sequencing was performed to identify or validate variants.ResultsWe achieved disease gene identification in 52.7% of AMC index pati…

musculoskeletal diseasesArtrogriposi múltiple congènitaSettore BIO/18 - GENETICAhuman geneticsneuromuscular diseasesGenomicsBiologyCONTRACTURESCLASSIFICATIONdiseasessymbols.namesakeDiagnòsticGene mappingarthrogryposis multiplex congenitaExome SequencingOF-FUNCTION MUTATIONSGeneticsMedicine and Health SciencesgenomicsHumansGenetics (clinical)Exome sequencingArthrogryposisSanger sequencingGeneticsArthrogryposis multiplex congenitaGenetic heterogeneitySPINAL MUSCULAR-ATROPHYProteinsnervous system malformationsDYSTROPHYDisease gene identificationGENEHuman geneticsPedigreeETIOLOGYPhenotypesymbolsneuromuscularGenèticaTranscription Factors
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