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Figure 1 Pedigree and genetic findings

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1 Figure 1 Pedigree and genetic findings
Pedigree and genetic findings (A) Pedigree of the family. The affected individual (V:2) is represented with a shaded symbol. (B) Sanger sequence analysis demonstrates the presence of homozygous variants in CHCHD2 and (C) TOP1MT in the patient and the segregation of the variants. (D) Multiple sequence alignment confirms that the p.Ala71Pro (CHCHD2) and p.Asp221Asn (TOP1MT) substitutions affect evolutionarily conserved residues (shaded). (E) Mutated residues and CHCHD2 protein structure: previously identified heterozygous missense variants associated with familial PD (black arrows) and the currently identified homozygous variant (red arrow) are all located in exon 2. The CHCHD2 p.Ala71Pro amino acid substitution is located within the central conserved hydrophobic domain at the transmembrane element. Richard G. Lee et al. Neurol Genet 2018;4:e276 Copyright © 2018 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.

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Figure Pedigree of the family

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