RESUMO
Mutations of the GDF5 gene cause a variable phenotype including brachydactyly type C. A review of the literature showed that it is caused either by heterozygous frameshift mutations within the prodomain or heterozygous missense/nonsense mutations within the active domain. Only a single patient with a homozygous mutation (c.517A > G, which predicts p. Met173Val) has been reported in this disorder. In this paper, we report two children with novel homozygous missense mutations in the GDF5 gene associated with brachydactyly type C: one mutation was within the region coding for the prodomain (c.608C > A, which predicts p.Thr203Asn) and the other was within the region coding for the active domain (c.1456 G > A, which predicts p.Val486Met). The genotype-phenotype correlations in the mutational spectrum of the GDF5 gene are discussed.
Assuntos
Braquidactilia/diagnóstico por imagem , Braquidactilia/genética , Fator 5 de Diferenciação de Crescimento/genética , Mutação de Sentido Incorreto/genética , Fenótipo , Sequência de Bases , Dedos/diagnóstico por imagem , Genótipo , Humanos , Lactente , Dados de Sequência Molecular , Radiografia , Arábia Saudita , Análise de Sequência de DNARESUMO
Solitary fibrous tumors (SFT) of the upper limb are extremely rare, and we report this tumor in the arm of a 30-year-old male. He is presented with a 22 cm painless mass. Complete surgical excision was performed. The histological diagnosis of SFT was based on the presence of ectatic blood vessels and positive staining for CD34 and vimentin. He remains disease-free at the 3-year follow-up interval. The report aims to increase the awareness of the criteria for the histological diagnosis of SFT, as well as the principles of their surgical excision and follow-up.