26 June 2022
: Case report
Juvenile Hyaline Fibromatosis: Report of a Case with a Novel ANTXR2 Gene Mutation
Challenging differential diagnosis, Rare disease, Congenital defects / diseases
Pongsakorn Choochuen1ABCDEF, Wison Laochareonsuk12CD, Pattama Tanaanantarak3CD, Kanet Kanjanapradit4B, Surasak Sangkhathat25ADEG*DOI: 10.12659/AJCR.935921
Am J Case Rep 2022; 23:e935921
Figure 4. (A) The aligned reads from WES were visualized on Integrative Genomics Viewer (IGV) [14]. The display show area of nucleotide base deletion/insertion (c.1273_1293delinsTCTTGTGGGTTTGGCT). (B) The Sanger sequencing of the ANTXR2 gene reveal that proband forward demonstrating a homozygous deletion/insertion mutation on exon 15 (c.1273_1293delinsTC TTGTGGGTTTGGCT) leading to a translational frameshift of amino acid chain starting at codon 425. The sequences of the unaffected mother and father show that both are carriers of JHF who share the same mutation.