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: Yali Wu,
Shasha Wang,
Wen Yin,
Wei Yin,
Yan Ding Tags: ORIGINAL ARTICLE Source Type: research
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