Lederer Damien, Shears Debbie, Benoit Valérie, Verellen-Dumoulin Christine, Maystadt Isabelle
Center for Human Genetics, IPG, Charleroi, (Gosselies), Belgium.
Am J Med Genet A. 2014 May;164A(5):1289-92. doi: 10.1002/ajmg.a.36442. Epub 2014 Mar 24.
Kabuki syndrome is a rare malformation syndrome characterized by a typical facial appearance, skeletal anomalies, cardiac malformation, and mild to moderate intellectual disability. In 55-80% of patients with Kabuki syndrome, a mutation in MLL2 is identified. Recently, eight patients with Kabuki syndrome and a mutation in KDM6A were described. In this report, we describe two brothers with a mutation in KDM6A inherited from their mother and maternal grandmother. The two boys have Kabuki-like phenotypes whereas the mother and grandmother present with attenuated phenotypes. This family represents the first instance of hereditary X-linked Kabuki syndrome. We present a short literature review of the patients described with a mutation in KDM6A.
歌舞伎综合征是一种罕见的畸形综合征，其特征为典型的面部外观、骨骼异常、心脏畸形以及轻度至中度智力障碍。在55%至80%的歌舞伎综合征患者中，可检测到MLL2基因发生突变。最近，有文献报道了8例患有歌舞伎综合征且KDM6A基因发生突变的患者。在本报告中，我们描述了两兄弟，他们从母亲和外祖母那里遗传了KDM6A基因突变。这两个男孩具有类似歌舞伎综合征的表型，而母亲和外祖母的表型则较轻。这个家族是遗传性X连锁歌舞伎综合征的首个病例。我们对已报道的KDM6A基因突变患者进行了简短的文献综述。
