Figure 1: Homozygous missense mutations in CDCA7 in five ICF3 patients. | Nature Communications

Figure 1: Homozygous missense mutations in CDCA7 in five ICF3 patients.

From: Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome

Figure 1

(a) Schematic representation of CDCA7, with the identified homozygous missense mutations in red. Sequence outtake: 4-CXXC-type zinc-finger domain, CXXC motifs are underlined, mutated residues in red. (b–d) Sanger sequencing confirmation of missense mutations in CDCA7 in families A–C. All variants were homozygous, the reference sequence is displayed for comparison. (e) Sanger sequencing confirmation of the homozygous missense CDCA7 mutation in patients 2.2 (proband) and 2.3 of family D. Both parents are heterozygous for the variant, sibling 2.1 is unaffected and homozygous for the wild-type (wt) allele.

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