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. 2024 Jan 16;134(2):e170054. doi: 10.1172/JCI170054

Figure 1. Genetic analysis pipeline and identification of bi-\allelic SEL1L and HRD1 variants in patients.

Figure 1

(A–C) Family pedigrees for the kindreds from Saudi Arabia (A, patient 1, consanguineous), Morocco (B, patients 2–5, consanguineous), and Italy (C, patient 6), showing autosomal recessive inheritance. Shaded shapes, individuals with symptoms; arrows, probands. Ages indicated are as of 2022. (D–F) Genetic analysis pipeline of WES data for (D) patient 1 (SEL1L p.G585D), (E) patients 2–3 (SEL1L p.M528R), and (F) patient 6 (HRD1 p.P398L). (G and H) Exonic and chromosomal location of the SEL1L (G) and HRD1 (H) variants as well as Sanger sequencing confirmation of the patients and healthy family members from parts A–C. Red arrowheads, nucleotide changes; K, heterozygosity.