Clinical and genetic characteristics of rare variants of acromelic skeletal dysplasias caused by mutations in the <i>FBN1</i> gene

• DOI: 10.17816/ptors65367
• Publication Date: 2021-10-04T11:55:46Z
• Authors: Tatyana V. Markova; Vladimir M. Kenis; Evgenii V. Melchenko; Tatyana S. Nagornova; Aysylu F. Murtazina; Elena L. Dadali
• Keywords: 0301 basic medicine; 03 medical and health sciences; 3. Good health

BACKGROUND: Geleophysic dysplasia and acromicric are rare hereditary diseases characterized by dwarfism dysplastic skeletal features. In the literature, only a few cases of geleophysic caused mutations in FBN1 gene described. CLINICAL CASES: A description clinical genetic characteristics three female patients with acromelic dysplasias types missense is presented. two patients, on basis manifestations radiographic examination, dysplasia, one patient were diagnosed. It was shown that all identified localized exons encoding amino acid sequence fifth domain, which has homology transforming growth factor-beta. DISCUSSION: We have analyzed correlations to confirm previously stated hypothesis about occurrence severe phenotype c.5206T C mutation. This mutation replacement cysteine arginine position polypeptide chain leading moderate c.5284 G (p. Gly1762Ser). undescribed substitution c.5177G (p.Gly1726Asp another described this codon resulted glutamine valine. causes appearance less pronounced AD. CONCLUSIONS: Based results examination Russian analysis parameters we reported disrupted like factor-beta domain fibrillin type 1. Importantly, these responsible for dysplasia. However, most observed at 1736. may lead affecting signaling pathway.