Clinical characteristics and genotype analysis of a Chinese patient with juvenile arthritis due to novel LACC1 frameshift mutation and literature review

ConclusionsOur study reported a rare case of juvenile arthritis, which is due to the compound heterozygous mutation ofLACC1, including a new novel frameshift mutation c.446_449dupTAAA, andLACC1 C297R variant causes disease by potentially modifying the local conformation of proteins. The clinical and genetic findings in our study show thatLACC1-JA is highly heterogeneous, and gene testing is required for juvenile arthritis patients with a high inflammatory response at a young onset age.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research