Clinical and genetic characteristics of 10 Japanese patients with PROM1-associated retinal disorder: A report of the phenotype spectrum and a literature review in the Japanese population

Kaoru Fujinami, Akio Oishi, Lizhu Yang, Gavin Arno, Nikolas Pontikos, Kazutoshi Yoshitake, Yu Fujinami-Yokokawa, Xiao Liu, Takaaki Hayashi, Satoshi Katagiri, Kei Mizobuchi, Atsushi Mizota, Kei Shinoda, Natsuko Nakamura, Toshihide Kurihara, Kazuo Tsubota, Yozo Miyake, Takeshi Iwata, Akitaka Tsujikawa, Kazushige Tsunoda

研究成果: Article査読

2 被引用数 (Scopus)

抄録

Variants in the PROM1 gene are associated with cone (−rod) dystrophy, macular dystrophy, and other phenotypes. We describe the clinical and genetic characteristics of 10 patients from eight Japanese families with PROM1-associated retinal disorder (PROM1-RD) in a nationwide cohort. A literature review of PROM1-RD in the Japanese population was also performed. The median age at onset/examination of 10 patients was 31.0 (range, 10–45)/44.5 (22–73) years. All 10 patients showed atrophic macular changes. Seven patients (70.0%) had spared fovea to various degrees, approximately half of whom had maintained visual acuity. Generalized cone (−rod) dysfunction was demonstrated in all nine subjects with available electrophysiological data. Three PROM1 variants were identified in this study: one recurrent disease-causing variant (p.Arg373Cys), one novel putative disease-causing variant (p.Cys112Arg), and one novel variant of uncertain significance (VUS; p.Gly53Asp). Characteristic features of macular atrophy with generalized cone-dominated retinal dysfunction were shared among all 10 subjects with PROM1-RD, and the presence of foveal sparing was crucial in maintaining visual acuity. Together with the three previously reported variants [p.R373C, c.1551+1G'A (pathogenic), p.Asn580His (likely benign)] in the literature of Japanese patients, one prevalent missense variant (p.Arg373Cys, 6/9 families, 66.7%) detected in multiple studies was determined in the Japanese population, which was also frequently detected in the European population.

本文言語English
ページ(範囲)656-674
ページ数19
ジャーナルAmerican Journal of Medical Genetics, Part C: Seminars in Medical Genetics
184
3
DOI
出版ステータスPublished - 2020 9 1

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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