Article
POLD1 variants leading to reduced polymerase activity can cause hearing loss without syndromic features.
Human mutation - 1 May 2020
Oh Doo-Yi, Matsumoto Yoshihiro, Kitajiri Shin-Ichiro, Kim Nayoung K D, Kim Min Young, Kim Ah Reum, Lee Mingyu, Lee Chung, Tomkinson Alan E, Katsuno Tatsuya, Kim So Young, Shin Hyun-Woo, Han Jin Hee, Lee Seungmin, Park Woong-Yang, Choi Byung Yoon
Abstract excerpt
DNA polymerase δ, whose catalytic subunit is encoded by POLD1, is responsible for synthesizing the lagging strand of DNA. Single heterozygous POLD1 mutations in domains with polymerase and exonuclease activities have been reported to cause syndromic deafness as a part of multisystem metabolic disorder or predisposition to cancer. However, the phenotypes of diverse combinations of POLD1 genotypes have not been...
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