Aristizábal Erica, Diaz-Ordóñez Lorena, Candelo Estephania, Pachajoa Harry
Center for Research on Congenital Anomalies and Rare Diseases (CIACER), Department of Basic Medical Sciences, Universidad Icesi, Cali, Valle del Cauca, Colombia.
Fundación Valle del Lili, Cali, Valle del Cauca, Colombia.
Appl Clin Genet. 2021 Oct 5;14:409-416. doi: 10.2147/TACG.S317723. eCollection 2021.
Kabuki syndrome (KS) is an autosomal dominant genetic disorder in which most cases are caused by de novo mutations. KS type 1 is caused by mutations in (OMIM: #147920) and is more common. KS type 2 is caused by mutations in (OMIM: #300867). Both genes encode proteins that modify histones and are involved in epigenetic regulation. The enzyme histone-lysine N-methyltransferase 2D, the product of , is expressed in most adult tissues and is essential for early embryonic development. The main clinical manifestations of KS include dysmorphic facial features, such as elongated palpebral fissures, eversion of the lateral third of the lower eyelids, and short nasal columella with a broad and depressed nasal tip. Additionally, patients also present with skeletal abnormalities, dermatoglyphic features, mild-to-moderate intellectual disability, hearing loss, and postnatal growth deficiency. We describe an 11-year-old girl from Colombia, who presented with characteristic clinical signs of KS. Genetic studies showed a intronic variant (KMT2D NM_003482.3: c.511-2A> T) as a cause of KS.
歌舞伎综合征（KS）是一种常染色体显性遗传病，大多数病例由新发突变引起。1型KS由（OMIM：#147920）中的突变引起，更为常见。2型KS由（OMIM：#300867）中的突变引起。这两个基因都编码修饰组蛋白并参与表观遗传调控的蛋白质。组蛋白赖氨酸N-甲基转移酶2D（KMT2D）是 的产物，在大多数成人组织中表达，对早期胚胎发育至关重要。KS的主要临床表现包括面部畸形特征，如睑裂延长、下眼睑外侧三分之一外翻、鼻小柱短且鼻尖宽而凹陷。此外，患者还伴有骨骼异常、皮纹特征、轻度至中度智力残疾、听力丧失和出生后生长发育迟缓。我们描述了一名来自哥伦比亚的11岁女孩，她表现出KS的典型临床症状。基因研究显示一个内含子变异（KMT2D NM_003482.3：c.511-2A>T）是导致KS的原因。
