Case Report: A novel variant in fibrillin-2 identified in a congenital contractural arachnodactyly family with phenotypic heterogeneity [PDF]
Frontiers in MedicineBackground and objectivesCongenital contractural arachnodactyly (CCA) is a rare autosomal dominant connective tissue disorder, and FBN2 is its only known causative gene.
Nan-Miao Wang +11 more
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Identification of Novel FBN2 Variants in a Cohort of Congenital Contractural Arachnodactyly
Frontiers in Genetics, 2022 Congenital contractural arachnodactyly (CCA) is a rare autosomal dominant disorder of connective tissue characterized by crumpled ears, arachnodactyly, camptodactyly, large joint contracture, and kyphoscoliosis. The nature course of CCA has not been well-
Sen Zhao, Wenyao Zhong, Ge Xiong
exaly +3 more sources
Two Novel FBN2 Variants Causing Congenital Contractural Arachnodactyly [PDF]
Genetics ResearchCongenital contractural arachnodactyly (CCA) is a rare, autosomal dominant connective tissue disease characterized by arachnodactyly, camptodactyly, multiple joint contractures, tall and slender habitus, crumpled ears, and scoliosis.
Juan Zhao +9 more
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Biallelic CPAMD8 variants in a patient with ectopia lentis associated with extraocular systemic features reminiscent of Marfan syndrome [PDF]
Human Genome VariationHere we report an 18-year-old male patient with bilateral ectopia lentis and biallelic CPAMD8 variants (NM_015692.5:c.[2801delG];[4552C>T]; NP_056507.3:p.[(Gly934GlufsTer64)];[(Gln1518Ter)]).
Daiju Oba +5 more
doaj +2 more sources
Heimler Syndrome With Tooth Agenesis, Abnormal Enamel and Dentin Mineralization, Root Maldevelopment, and PEX1 Mutation [PDF]
International Dental Journal: Biallelic variants in the PEX1 and PEX6 genes are implicated in Heimler syndrome, which is characterized by amelogenesis imperfecta, sensorineural hearing loss, retinitis pigmentosa, and nail defects.
Piranit N. Kantaputra +11 more
doaj +2 more sources
FBN2 pathogenic mutation in congenital contractural arachnodactyly with severe skeletal manifestations [PDF]
Molecular Genetics and Metabolism ReportsBackground: Congenital contractural arachnodactyly (CCA) is a rare autosomal dominant connective tissue disorder caused by mutations in the fibrillin-2 (FBN2) gene, characterized by crumpled ears, arachnodactyly, camptodactyly, dolichostenomelia, large ...
Yazhou Huang +6 more
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Clinical Case Reports (discontinued), 2018 Key Clinical Message We identified a novel heterozygous mutation (c.4177T>G and p.Cys1393Gly) in FBN2 that cosegregated with congenital contractural arachnodactyly (CCA) in a five‐generation Chinese family.
Chengqi Xu
exaly +2 more sources
Missense variants of FBN2 associated with congenital arachnodactyly in three Chinese families [PDF]
Molecular Genetics and Metabolism ReportsBackground: Congenital contractural arachnodactyly (CCA) is a rare autosomal dominant disorder caused by pathogenic variants of Fibrillin-2 (FBN2) gene. This study aimed to investigate the variants in three Chinese families with CCA.
Yu Sui +6 more
doaj +2 more sources
Novel variant of FBN2 in a patient with congenital contractual arachnodactyly [PDF]
Human Genome VariationCongenital contractual arachnodactyly (CCA) is a genetic connective tissue disorder that is characterized by arachnodactyly, kyphoscoliosis, marfanoid habitus, and crumpled ears. We report a case of a boy with suspected Marfan syndrome.
Mina Nakama +4 more
doaj +2 more sources
Frontiers in Genetics, 2023 Background: Congenital contractural arachnodactyly (CCA) is an autosomal dominant connective tissue disorder with clinical features of arthrogryposis, arachnodactyly, crumpled ears, scoliosis, and muscular hypoplasia. The heterozygous pathogenic variants
An-Lei Li +19 more
doaj +1 more source