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 assess the value of copy number variation analysis based on next generation sequencing (CNV-seq) in prenatal diagnosis for women at advanced maternal age.@*METHODS@#A prospective analysis was carried out for women who underwent amniocentesis at 18~36 weeks of gestation for fetal CNV-seq for advanced maternal age.@*RESULTS@#For 1461 unrelated Chinese women with a singleton pregnancy, CNV-seq was performed for all samples successfully. The proportion of chromosomal abnormalities was 2.3% (34/1461), of which 44.12% were submicroscopic copy number variations (<5 Mb).@*CONCLUSION@#Pregnant women at an advanced maternal age should be informed for not only common trisomies but all pathogenic chromosomal aberrations. NGS was a sensitive and accurate approach for detecting CNVs.
Subject(s)
Female , Humans , Pregnancy , Chromosome Aberrations , Chromosome Disorders , DNA Copy Number Variations , Maternal Age , Prenatal Diagnosis , Prospective StudiesABSTRACT
Objective To investigate and analyze the relationship of clinicopathological stages characteristics and surgical proce-dures of perforation of gastric cancer .Methods Data of clinicopathological stages characteristics of 50 patients with perforation of gastric cancer in this hospital were retrospectively analyzed ,and the correlation between of the different clinicopathological stages and surgical procedures was analyzed .Results Fifty patients were with clinical stage Ⅱ - Ⅳ ,there were 2 cases of stage Ⅱ ,19 ca-ses of stage Ⅲ ,29 cases of stage Ⅳ .Surgical approach were simple perforation repair ,palliative surgery ,first radical resection and second radical resection ,and the number of cases were 16 cases(6 cases of stage Ⅲ ,10 cases of stage Ⅳ) ,19 cases(6 cases of stageⅢ ,13 cases of stage Ⅳ) ,4 cases(one case of stage Ⅱ ,3 cases of stage Ⅲ) and 11 cases(4 cases of stage Ⅱ ,7 cases of stage Ⅲ) . Conclusion It indicated that making reasonable choice of surgical approach according to the clinical staging can improve patients′outcomes .