歌舞伎综合征伴低丙种球蛋白血症和严重慢性血小板减少症的新型MLL2突变
Novel MLL2 mutation in Kabuki syndrome with hypogammaglobulinemia and severe chronic thrombopenia.
作者信息
Brackmann Florian, Krumbholz Manuela, Langer Thorsten, Rascher Wolfgang, Holter Wolfgang, Metzler Markus
机构信息
Department of Pediatrics, University of Erlangen-Nürnberg, Erlangen, Germany.
出版信息
J Pediatr Hematol Oncol. 2013 Oct;35(7):e314-6. doi: 10.1097/MPH.0b013e3182707fa8.
BACKGROUND
Kabuki syndrome is a rare condition characterized by distinct dysmorphic features and a broad spectrum of organ anomalies. Differentiating it from other syndromes can be difficult, particularly in patients with incomplete phenotypic manifestation. Recently, MLL2 gene mutations were identified as the underlying genetic cause of Kabuki syndrome in the majority of cases.
OBSERVATIONS
We report the case of an adolescent with an uncommon combination of manifestations, including hypogammaglobulinemia and severe chronic thrombopenia associated with a novel MLL2 mutation.
CONCLUSIONS
This report adds to the growing knowledge on the mutational and phenotypic spectrum of Kabuki syndrome.
背景
歌舞伎综合征是一种罕见疾病，其特征为独特的畸形特征和广泛的器官异常。将其与其他综合征区分开来可能很困难，尤其是在那些表型表现不完全的患者中。最近，在大多数病例中，MLL2基因突变被确定为歌舞伎综合征的潜在遗传病因。
观察结果
我们报告了一例青少年患者，其表现为罕见的组合，包括低丙种球蛋白血症和严重慢性血小板减少症，并伴有一种新的MLL2突变。
结论
本报告增加了我们对歌舞伎综合征突变和表型谱的认识。
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