Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with ""corner fractures""

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Arquivos
art_COSTANTINI_Novel_fibronectin_mutations_and_expansion_of_the_phenotype_2019.PDF (1.65 MB)
Citações na Scopus
10
Tipo de produção
article
Data de publicação
2019
DOI
Scopus
Web of Science
PubMed
Título da Revista
ISSN da Revista
Título do Volume
Editora
ELSEVIER SCIENCE INC
Autores
COSTANTINI, Alice
VALTA, Helena
BARATANG, Nissan Vida
YAP, Patrick
CHEN, Jiani
WIERENGA, Klaas J.
FANNING, Elizabeth A.
Citação
BONE, v.121, p.163-171, 2019
Projetos de Pesquisa
Unidades Organizacionais
Fascículo
Resumo
Heterozygous pathogenic variants in the FN1 gene, encoding fibronectin (FN), have recently been shown to be associated with a skeletal disorder in some individuals affected by spondylometaphyseal dysplasia with ""corner fractures"" (SMD-CF). The most striking feature characterizing SMD-CF is irregularly shaped metaphyses giving the appearance of ""corner fractures"". An array of secondary features, including developmental coxa vara, ovoid vertebral bodies and severe scoliosis, may also be present. FN is an important extracellular matrix component for bone and cartilage development. Here we report five patients affected by this subtype of SMD-CF caused by five novel FN1 missense mutations: p.Cys123Tyr, p.Cys169Tyr, p.Cys213Tyr, p.Cys23ITrp and p.Cys258Tyr. All individuals shared a substitution of a cysteine residue, disrupting disulfide bonds in the FN type-I assembly domains located in the N-terminal assembly region. The abnormal metaphyseal ossification and ""corner fracture"" appearances were the most remarkable clinical feature in these patients. In addition, generalized skeletal fragility with low-trauma bilateral femoral fractures was identified in one patient. Interestingly, the distal femoral changes in this patient healed with skeletal maturation. Our report expands the phenotypic and genetic spectrum of the FN1-related SMD-CF and emphasizes the importance of FN in bone formation and possibly also in the maintenance of bone strength.
Palavras-chave
FN1, Fibronectin, Skeletal dysplasia, Corner-fracture, Coxa vara, Mutation
URI
https://observatorio.fm.usp.br/handle/OPI/31777
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Coleções
Artigos e Materiais de Revistas Científicas - FM/MPE
Artigos e Materiais de Revistas Científicas - HC/ICr
Artigos e Materiais de Revistas Científicas - LIM/36