Next-Generation Sequencing (NGS) data and Sanger sequencing data

Non-syndromic congenital nail disorder type 4 (OMIM: 206800) is a rare autosomal recessive condition characterized by severe underdevelopment or complete absence of fingernails and toenails. This disorder results from variants in the RSPO4 gene (OMIM: 610573) located on chromosome 20p13.A novel frameshift variant in the RSPO4 gene—c.268dupA / p.Cys91fs*6—was identified and classified based on WES and Sanger sequence in a Chinese patient .