A Patient with Kabuki Syndrome Mutation Presenting with Very Severe Aplastic Anemia
| Autor: | Akira Kinoshita, Yusuke Yamashita, Hiroyuki Mishima, Shinobu Tamura, Toshiki Mushino, Akinori Nishikawa, Yoshiaki Furuya, Takashi Sonoki, Ko-ichiro Yoshiura, Hideki Kosako |
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| Rok vydání: | 2021 |
| Předmět: | |
| Zdroj: | Acta Haematologica. 145:89-96 |
| ISSN: | 1421-9662 0001-5792 |
| Popis: | Kabuki syndrome (KS) is a rare congenital disorder commonly complicated by humoral immunodeficiency. Patients with KS present with mutation in the histone-lysine N-methyltransferase 2D (KMT2D) gene. Although various KMT2D mutations are often identified in lymphoma and leukemia, those encountered in aplastic anemia (AA) are limited. Herein, we present the case of a 45-year-old Japanese man who developed severe pancytopenia and hypogammaglobulinemia. He did not present with any evident malformations, intellectual disability, or detectable levels of autoantibodies. However, B-cell development was impaired. Therefore, a diagnosis of very severe AA due to a hypoplastic marrow, which did not respond to granulocyte colony-stimulating factor, was made. The patient received umbilical cord blood transplantation but died from a Pseudomonas infection before neutrophil engraftment. Trio whole-exome sequencing revealed a novel missense heterozygous mutation c.15959G >A (p.R5320H) in exon 50 of the KMT2D gene. Moreover, Sanger sequencing of peripheral blood and bone marrow mononuclear cells and a skin biopsy specimen obtained from this patient identified this heterozygous mutation, suggesting that de novo mutation associated with KS occurred in the early embryonic development. Our case showed a novel association between KS mutation and adult-onset AA. |
| Databáze: | OpenAIRE |
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