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. 2020 Jun 8;107(1):158–163. doi: 10.1016/j.ajhg.2020.05.013

Figure 1.

Figure 1

Ichthyosis Subjects Heterozygous for ASPRV1 Mutations

Sanger sequencing was performed subsequent to exome sequencing results (Table S1).

(A) In kindred 292, five subjects (II-3, III-2, III-3, IV-1, IV-2) are heterozygous (het) for c.932G>C, encoding p.Arg311Pro; two unaffected first-degree relatives (I-2, II-4) are wild-type (WT) at this site.

(B) In kindred 630, the proband (IV-1) is heterozygous for c.940C>A, encoding p.Pro314Thr. DNA from other members of the kindred was not available.

(C) In kindred 1055, the proband (III-1) and his affected mother (II-2) and brother (III-2) are heterozygous for c.595A>G, encoding p.Lys199Glu. This mutation is absent from the unaffected maternal uncle (II-1) and grandparents (I-1, I-2), and thus arose de novo in the proband’s mother.

(D) In kindred 1099, the proband (II-1) is heterozygous for c.940C>A, encoding p.Pro314Thr, which is absent from his unaffected parents (I-1, I-2) and thus arose de novo.