- •We reported 14 NPPK patients with biallelic SERPINB7 mutations, including one novel mutation p.Trp145Ser.
- •The mutant allele frequency of the East Asian SERPINB7 founder mutation c.796C>T was 0.536 in the present 14 NPPK patients.
- •11 of the 14 (78.6 %) NPPK patients had the founder mutation.
- •NPPK families with the founder mutation accounted for 85.9 % of the previously reported and present Japanese NPPK families.
- •NPPK families with the founder mutation accounted for 87.6 % (78/89 families) of East Asian NPPK families.
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Published online: June 06, 2021
Accepted: June 4, 2021
Received in revised form: May 12, 2021
Received: December 8, 2020
© 2021 Japanese Society for Investigative Dermatology. Published by Elsevier B.V. All rights reserved.