Two cases of variant late infantile ceroid lipofuscinosis in Jordan

Figure 1 Family pedigree and segregation analysis of the identified variant NM_017882. 2:c.794_796delCCT;p.Ser265del based on Sanger sequencing. The sequences shown are reverse complementary to CCT(AGG). The probands III-6 and III-7 are homozygous for the variant. The parents (II-1 and II-2) are heterozygous for the variant. The healthy siblings III-1, III-2, and III-3 are heterozygous for the variant.