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Purpose   To report the spectrum of  ABCC6  variants in Japanese patients with angioid streaks (AS).Patients and Methods   This was a single-center cohort study. The medical records of 20 patients with AS from 18 unrelated Japanese families were retrospectively reviewed. Screening of the  ABCC6  gene (exons 1 to 31) was performed using PCR-based Sanger sequencing.Results   Eight  ABCC6  variants were identified as candidate disease-causing variants. These eight variants included five known variants (p.Q378X, p.R419Q, p.V848CfsX83, p.R1114C, and p.R1357W), one previously reported variant (p.N428S) of unknown significance, and two novel variants (c.1939C>T [p.H647Y] and c.3374C>T [p.S1125F]); the three latter variants were determined to be variants of significance. The following four variants were frequently identified: p.V848CfsX83 (14/40 alleles, 35.0%), p.Q378X (7/40 alleles, 17.5%), p.R1357W (6/40 alleles, 15.0%), and p.R419Q (4/40 alleles, 10.0%). The  ABCC6  variants were identified in compound heterozygous or homozygous states in 13 of 18 probands. Two families showed a pseudodominant inheritance pattern. Pseudoxanthoma elasticum was seen in 15 of 17 patients (88.2%) who underwent dermatological examination.Conclusions   We identified disease-causing  ABCC6  variants that were in homozygous or compound heterozygous states in 13 of 18 families (72.2%). Our results indicated that  ABCC6  variants play a significant role in patients with AS in the Japanese population.

ABCC6 Gene Analysis in 20 Japanese Patients with Angioid Streaks Revealing Four Frequent and Two Novel Variants and Pseudodominant Inheritance