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Int J Hematol. 2015 Nov;102(5):544-52. doi: 10.1007/s12185-015-1861-6. Epub 2015 Sep 2.

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

Author information

1
Department of Hematology, Nippon Medical School, 1-1-5 Sendagi, Bunkyo-Ku, Tokyo, 113-8603, Japan. y-hiroki@fd6.so-net.ne.jp.
2
Department of Pediatrics, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8560, Japan.
3
Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University, Konoechyou, Yoshida, Sakyou-ku, Kyoto, 606-8501, Japan.
4
Department of Cell Transplantation and Regenerative Medicine, Tokai University School of Medicine, 143 Shitakasuya, Isehara, 259-1193, Japan.
5
Department of Hematology, Nippon Medical School, 1-1-5 Sendagi, Bunkyo-Ku, Tokyo, 113-8603, Japan.
6
Laboratory of DNA Information Analysis, Human Genome Center, Institute of Medical Science, The University of Tokyo, 4-6-1 Shiroganedai, Minato-ku, Tokyo, 108-8639, Japan.
7
Laboratory of Sequence Analysis, Human Genome Center, Institute of Medical Science, The University of Tokyo, 4-6-1 Shiroganedai, Minato-ku, Tokyo, 108-8639, Japan.
8
Department of Pediatrics, Hirosaki University Graduate School of Medicine, 53 Honchyou, Hirosaki, 036-8563, Japan.

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.

KEYWORDS:

Bone marrow failure; Cryptic dyskeratosis congenita; Dyskeratosis congenita; Genetic feature; Hoyeraal-Hreidarsson syndrome

PMID:
26329388
DOI:
10.1007/s12185-015-1861-6
[Indexed for MEDLINE]

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