Analysis of genetic variant in a child with Aspartylglucosaminuria / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a child with Aspartylglucosaminuria (AGU).@*METHODS@#Clinical data of the patient was analyzed. The child was subjected to trio-whole exome sequencing (WES) and copy number variation sequencing (CNV-seq), and candidate variant was verified by Sanger sequencing.@*RESULTS@#The child was found to harbor homozygous c.319C>T (p.Arg107*) nonsense variant of the AGA gene, for which both of his parents were heterozygous carriers. No abnormality was found by CNV-seq analysis. The c.319C>T (p.Arg107*) variant was not found in population database, HGMD and other databases. Based on guidelines of the American College of Medical Genetics and Genomics, the variant was predicted to be pathogenic (PVS1+PM2+PP3).@*CONCLUSION@#The c.319C>T variant of the AGA gene probably underlay the autosomal recessive AGU in this child. Above finding has enabled genetic counseling and prenatal diagnosis for his parents.

Coronal lower limb alignment in total knee arthroplasty / 中华外科杂志

Many factors contribute to a successful total knee arthroplasty, and postoperative coronal lower limb alignment has always been a focus of joint surgeons. Previous researches have suggested that neutral alignment can bring higher prosthesis survival rate and better knee function. However, the theory has been challenged in recent years.In this article, the author introduces the axis, alignment and osteotomy of total knee arthroplasty briefly and reviews the studies on the neutral alignment and kinematic alignment of recent years in order to provide some advice for the clinical operation.