Figure 7.

Human Patients with Bone Marrow Failure Syndrome Caused by Inactivating Mutations in ALDH2 and ADH5

(A) Location of mutations in the ADH5 and ALDH2 genes (top) and proteins (bottom).

(B) Family pedigree of patients P4–P7. All parents were heterozygous for ADH5 mutations and reported to be healthy regardless of ALDH2 genotype. N.T., not tested.

(C) Localization of missense mutations near the ADH5 dimer interface.

(D) ADH5 gene expression in fibroblasts from patients P1–P5 by protein and RNA. An asterisk denotes a non-specific band recognized by the antibody.

(E) SCEs per metaphase (mean ± SEM) in patient-derived, PHA-stimulated lymphoblasts (P1 and P2) and two unrelated ALDH2^∗1/^∗2 heterozygous volunteers (V1 and V2).

See also Figure S7.