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01-11-2015 | Original Article

Clinical and genetic features of dyskeratosis congenita, cryptic dyskeratosis congenita, and Hoyeraal-Hreidarsson syndrome in Japan

Authors: Hiroki Yamaguchi, Hirotoshi Sakaguchi, Kenichi Yoshida, Miharu Yabe, Hiromasa Yabe, Yusuke Okuno, Hideki Muramatsu, Yoshiyuki Takahashi, Shunsuke Yui, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Satoru Miyano, Koiti Inokuchi, Etsuro Ito, Seishi Ogawa, Seiji Kojima

Published in: International Journal of Hematology | Issue 5/2015

Abstract

Dyskeratosis congenita (DKC) is an inherited bone marrow failure (BMF) syndrome typified by reticulated skin pigmentation, nail dystrophy, and mucosal leukoplakia. Hoyeraal-Hreidarsson syndrome (HHS) is considered to be a severe form of DKC. Unconventional forms of DKC, which develop slowly in adulthood but without the physical anomalies characteristic of DKC (cryptic DKC), have been reported. Clinical and genetic features of DKC have been investigated in Caucasian, Black, and Hispanic populations, but not in Asian populations. The present study aimed to determine the clinical and genetic features of DKC, HHS, and cryptic DKC among Japanese patients. We analyzed 16 patients diagnosed with DKC, three patients with HHS, and 15 patients with cryptic DKC. We found that platelet count was significantly more depressed than neutrophil count or hemoglobin value in DKC patients, and identified DKC patients with large deletions in the telomerase reverse transcriptase and cryptic DKC patients with RTEL1 mutations on both alleles. This led to some patients previously considered to have unclassifiable BMF being diagnosed with cDKC through identification of new gene mutations. It thus seems important from a clinical viewpoint to re-examine the clinical characteristics, frequency of genetic mutations, and treatment efficacy in DKC, HHS, and cDKC.

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Title: Clinical and genetic features of dyskeratosis congenita, cryptic dyskeratosis congenita, and Hoyeraal-Hreidarsson syndrome in Japan
Authors: Hiroki Yamaguchi
Hirotoshi Sakaguchi
Kenichi Yoshida
Miharu Yabe
Hiromasa Yabe
Yusuke Okuno
Hideki Muramatsu
Yoshiyuki Takahashi
Shunsuke Yui
Yuichi Shiraishi
Kenichi Chiba
Hiroko Tanaka
Satoru Miyano
Koiti Inokuchi
Etsuro Ito
Seishi Ogawa
Seiji Kojima
Publication date: 01-11-2015
Publisher: Springer Japan
Published in: International Journal of Hematology / Issue 5/2015
Print ISSN: 0925-5710
Electronic ISSN: 1865-3774
DOI: https://doi.org/10.1007/s12185-015-1861-6

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