ABSTRACT
OBJECTIVE@#To explore the genetic basis for four patients suspected for Marfan syndrome (MFS).@*METHODS@#Four male patients with suspected MFS and their family members who were treated at West China Second Hospital of Sichuan University from September 12, 2019 to March 27, 2021 were selected as the study subjects. Peripheral venous blood samples were collected from the patients and their parents or other pedigree members for the extraction of genomic DNA. Whole exome sequencing was carried out, and candidate variants were validated by Sanger sequencing. The pathogenicity of the variants was determined based on the guidelines from the American College of Medical Genetics and Genomics (ACMG).@*RESULTS@#Genetic testing revealed that all four patients have harbored variants of the FBN1 gene, including c.430_433del (p.His144fs) deletional variant in exon 5, c.493C>T (p.Arg165*) nonsense variant in exon 6, c.5304_5306del (p.Asp1768del) deletional variant in exon 44 and c.5165C>G (p.Ser1722Cys) missense variant in exon 42. According to the ACMG guidelines, the c.430_433del and c.493C>T were classified as pathogenic variants (PVS1+PM2_Supporting+PP4; PVS1+PS1+PS2+PM2_Supporting+PP4). c.5304_5306del and c.5165C>G were classified as likely pathogenic variants (PS2+PM2_Supporting+PM4+PP4; PS2_Moderate+PS1+PM1+PM2_Supporting).@*CONCLUSION@#The c.430_433del and c.5304_5306del variants of the FBN1 gene identified in this study were unreported previously. Above results have enriched the variation spectrum of the FBN1 gene and provided a basis for genetic counseling and prenatal diagnosis of patients with MFS and acromicric dysplasia.
Subject(s)
Female , Pregnancy , Humans , Male , Exons , China , Family , Genetic Counseling , Genetic Testing , Marfan Syndrome/genetics , Mutation , Fibrillin-1/geneticsABSTRACT
Objective:To summarize the 10 year clinical experience of treating tibiafibular fractures with rectangle shaped intramedullary nails(RIN). Methods:From January 1987 to December 1996, 4 682 cases (3 278 male and 1 404 female) of tibiafibular fractures from 9 hospitals were treated with RIN . Three kinds of reduction methods including open reduction, semi open reduction and closed reduction were used during operation. Results:Results showed 2 173 cases (62.89%) got excellent result, 947 got good (27.40%), 214 got moderate (6.19%), 121 got poor (3.50%). The total healing rate was 90.29%. Conclusion:RIN has excellent biological characteristics which can provide a flexible interfixation when treating tibiafibular fractures, and the operation is simple, it also can be used for severe open fractures. RIN is one of the good techniques in treating tibiafibular fractures.