Pdf Milder Presentation Of Osteogenesis Imperfecta Type Viii Due To Abstract. osteogenesis imperfecta (oi) is a heritable disorder of bone metabolism characterized by multiple fractures with minimal trauma. autosomal recessive oi type viii is associated with biallelic pathogenic variants in p3h1 and classically characterized by skeletal anomalies in addition to significant bone fragility, sometimes presenting with in utero fractures and or neonatal lethality. Articles in the journal present genomic and molecular analyses of individuals or cohorts alongside their clinical presentations and phenotypic information. milder presentation of osteogenesis imperfecta type viii due to compound heterozygosity for a predicted loss of function variant and novel missense variant in p3h1—further expansion of the.
Milder Presentation Of Osteogenesis Imperfecta Type Viii Dueо Osteogenesis imperfecta (oi) is a heritable disorder of bone metabolism characterized by multiple fractures with minimal trauma. autosomal recessive oi type viii is associated with biallelic. Our report presents an even milder case of autosomal recessive oi type viii, characterized by biallelic pathogenic variants in p3h1, specifically a novel missense variant not expected to alter splicing in trans with a nonsense variant. although the proband had five long bone fractures within the first year of life, he did not show any other. Milder presentation of osteogenesis imperfecta type viii due to compound heterozygosity for a predicted loss of function variant and novel missense variant in p3h1—further expansion of the phenotypic spectrum. It is hypothesize that missense variants in the catalytic domain of p3h1 lead to decreased but not absent hydroxylation of pro986, with preserved kdel retention signal and complex stability, causing an attenuated phenotype. osteogenesis imperfecta (oi) is a heritable disorder of bone metabolism characterized by multiple fractures with minimal trauma. autosomal recessive oi type viii is.
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