Department of Medical Genetics, Institute of Mother and Child, 17a Kasprzaka Street, 01-211 Warsaw, Poland.
Department of Molecular and Medical Genetics, Oregon Health and Science University, 3181 SW Sam Jackson Park Road L103, Portland, Oregon, USA.
J Mother Child. 2021 Apr 30;24(3):32-36. doi: 10.34763/jmotherandchild.20202403.2021.d-20-00003.
The Mediator complex subunit 13-like is a part of the large Mediator complex. Recently, a large number of patients were diagnosed with mutations in this gene, which makes it one of the most frequent causes of syndromic intellectual disability. In this work, we report a patient with a novel likely pathogenic variant c.5941C>T, p.(Gln1981*) in the gene with severe intellectual disability and facial dysmorphism. Uncommon findings like lack of speech, strabismus and self-destructive behaviour present in our patient allowed us to further define the phenotypic spectrum of mental retardation and distinctive facial features with or without cardiac defects syndrome.
中介复合物亚基 13 样蛋白是大型中介复合物的一部分。最近，大量患者被诊断出该基因发生突变，这使其成为最常见的综合征性智力残疾原因之一。在本研究中，我们报道了一名患者，携带 基因中的新型可能致病性变异 c.5941C>T，p.(Gln1981*)，表现为严重智力残疾和面部畸形。患者存在不常见的表现，如无语言能力、斜视和自残行为，这使我们能够进一步明确智力障碍和具有或不具有心脏缺陷特征的独特面部特征的表型谱。
