case_images: PMC9453448_01
case_images: PMC9453448_02
case_images: PMC9453448_03
case_images: PMC9453448_04
case_images: Phenotypic (A) and genetic (B) cascade screening. According to phenotypic screening, the younger grandson has HeFH [black-filled square (A)], in relation to genetic screening, he is healthy [white square (B)]. Circles represent females, squares indicate males, and diamond is pregnancy (unknown gender). Black-filled symbols show FH phenotype, gray symbols point to members with an unknown phenotype, and white symbols are healthy family members. Slashes indicate deceased members. +/- or -/- represent heterozygous or wild-type of LDLR-p.K223_D227dup variant. The index patient (II-1) is marked with an arrow. LDL-C, low-density lipoprotein cholesterol; P, pregnancy.
case_images: fcvm-09-982607-g0001.jpg
case_images: PMC9453448_04_fcvm-09-982607-g0001.jpg
case_images: F1
case_images: She also had a high LDL-C level (9.81 mmol/L) but had never taken a LLT (Figure 1A). Despite that phenotypic screening suggested HeFH in two proband's grandsons, the genetic screening made it possible to rule out FH in the younger grandson (Figure 1B).
case_images: Genetic analysis of the index patient. (A) Integrated genome view of LDLR-p.K223_D227dup with IGV. (B, C) Electropherograms of LDLR-p.K223_D227dup: (B) sequence from the forward primer, (C) sequence from the reverse primer (reverse complement).
case_images: fcvm-09-982607-g0002.jpg
case_images: PMC9453448_04_fcvm-09-982607-g0002.jpg
case_images: F2
case_images: The validation of this variant was done by Sanger sequencing (Figure 2).