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

International Journal of Hematology
Hiroki YamaguchiSeiji Kojima

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 t...Continue Reading

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Citations

Apr 30, 2016·Pediatric Blood & Cancer·Kunihiko MoriyaShigeo Kure
Jul 13, 2018·Journal of Clinical and Experimental Hematopathology : JCEH·Hideto Iwafuchi
Sep 4, 2019·Expert Review of Hematology·Marena R Niewisch, Sharon A Savage
May 26, 2017·Journal of Pediatric Hematology/oncology·Shinichi TamuraHiroshi Kuroda
Mar 10, 2020·International Journal of Laboratory Hematology·Kazuki TeradaTakashi Okada
Aug 20, 2020·RNA Biology·Jian Qin, Chantal Autexier
May 17, 2017·Frontiers in Immunology·Carsten SpeckmannMarcin W Wlodarski
Jul 12, 2019·Nucleic Acids Research·Haiying LiuYong Zhao
Jan 4, 2019·International Journal of Hematology·Fuxing LiXiaotian Xie

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