ABSTRACT
OBJECTIVE@#To explore the genetic basis of a pedigree affected with peroneal muscular atrophy.@*METHODS@#Neuroelectrophysiological examination and whole exome sequencing were carried out for the proband, a six-year-and-ten-month-old boy. Suspected variant was verified in his family members through Sanger sequencing. Bioinformatic analysis was carried to predict the conservation of amino acid sequence and impact of the variant on the protein structure and function.@*RESULTS@#Electrophysiological examination showed demyelination and axonal changes of motor and sensory nerve fibers. A heterozygous missense c.1066A>G (p. Thr356Ala) variant was found in exon 11 of the MFN2 gene in the proband and his mother, but not in his sister and father. Bioinformatic analysis using PolyPhen-2 and Mutation Taster software predicted the variant to be pathogenic, and that the sequence of variation site was highly conserved among various species. Based no the American College of Medical Genetics and Genomics standards and guidelines, the c.1066A>G (p. Thr356Ala) variant of MFN2 gene was predicted to be likely pathogenic (PS1+ PM2+ PP3+ PP4).@*CONCLUSION@#The heterozygous missense c.1066A>G (p.Thr356Ala) variant of the MFN2 gene probably underlay the disease in the proband, and the results have enabled genetic counseling and prenatal diagnosis for this family.
Subject(s)
Child , Female , Humans , Male , Pregnancy , Charcot-Marie-Tooth Disease/genetics , China , Drosophila Proteins/genetics , Exons , Heterozygote , Membrane Proteins/genetics , Mutation , Pedigree , Exome SequencingABSTRACT
Objective To investigate the clinical efficacy of posterior lumbar interbody fusion and internal fixation for the treatment of lumbar spinal stenosis with redundant nerve roots (RNRs).Methods A retrospective case series study was performed on the clinical data of 23 cases of lumbar spinal stenosis with RNRs from January 2009 to December 2014.This study involved 10 males and 13 females,with an average age of 48.4 years(range,38-58 years).The course of disease averaged 28.1 months(range,2 months-7 years).There were seven patients with single segment of stenosis,12 patients with two segments of stenosis,and four patients with three segments of stenosis.RNRs diagnostic criteria:in the sagittal section of the MRIT2 image of lumbar spine,the cauda equina nerve root in the dural sac was circular,tortuous and twining.MRI information was collected and analyzed by three double-blind radiologists,respectively.RNRs were determined based on the unanimous consent of all the three doctors.All patients underwent posterior discectomy,spinal canal decompression,interbody fusion,and internal fixation after admission.The operation time,intraoperative blood loss,and postoperative complications were recorded.The visual analogue scale (VAS),Oswestry disability index (ODI),and Japanese Orthopedic Association (JOA) score were used to evaluate the back pain and leg pain before operation and 3 months after operation.Fischgrund standard was used for the overall efficacy evaluation.Results All patients were followed up for 12-30 months (mean,23.3 months).The operation time was (130.0 ± 23.2) minutes,and the intraoperative blood loss was (513.0 ± 165.0) ml.MRI was reviewed 1 week after operation,and the result showed that redundancy of cauda equina disappeared.Preoperatively,the scores of back pain VAS,leg pain VAS,ODI and JOA were (6.3± 0.8) points,(6.8 ±0.9)points,(46.7±2.5)points and (10.3 ±2.8)points,respectively.At 3 months postoperatively,the scores were (1.4 ± 0.5) points,(1.8 ± 0.7) points,(11.9 ± 2.1) points,and (25.3 ± 1.8) points,respectively (P ＜ 0.05).In terms of the efficacy,17 cases were excellent,four good,and two fair,with an excellent and good rate of 91％.At 12 months after operation,the CT scan showed no screw rupture or cage dislocation,with bony union seen between the vertebrae.Conclusion Posterior lumbar interbody fusion and internal fixation can help relieve the back and leg pain and eliminate redundant nerve roots in patients with lumbar spinal stenosis with RNRs.