case_images: PMC7246397_01
case_images: Pedigree of Family 1 associated with JLNS. A novel compound heterozygous mutation, c.1741A>T/c.477+5G>A was found in Family member 1-II-1. Family member 1-I-1 and Family member 1-I-2 were heterozygous carriers. The proband is shown in black and indicated by a black arrow. WT: wild type.
case_images: NP2020-3569359.001.jpg
case_images: PMC7246397_01_NP2020-3569359.001.jpg
case_images: fig1
case_images: This Chinese family, named family 1, is associated with JLNS and contains three family members (son, mother, and father) (Figure 1).