Pachajoa Harry, Gomez-Pineda Eidith, Giraldo-Ocampo Sebastian, Lores Juliana
Genetics Division, Fundación Valle del Lili, Cali, Colombia.
Centro de Investigaciones en Anomalías Congénitas y Enfermedades Raras (CIACER), Universidad Icesi, Cali, Colombia.
Pharmgenomics Pers Med. 2022 Nov 1;15:913-918. doi: 10.2147/PGPM.S380908. eCollection 2022.
Mowat-Wilson syndrome is a rare, autosomal dominant neurodevelopmental disorder characterized by distinctive facial gestalt and intellectual disability that is often associated with microcephaly, seizures and multiple congenital anomalies, mainly heart defects. More than 350 patients and 180 genetic variants in the gene, have been reported with an estimated frequency of 1 per 70,000 births. Here we report a Colombian female patient with facial gestalt, intellectual disability, microcephaly, congenital heart defects, hypothyroidism and middle ear defect associated with the nonsense pathogenic variant c.2761C>T (p.Arg921Ter) in the gene. This case contributes to the understanding of the clinical complications and the natural history of this complex and clinically heterogeneous disorder but also to the awareness that patients with heart congenital defects and dysmorphic facies may present an underlying genetic disorder.
莫瓦特-威尔逊综合征是一种罕见的常染色体显性神经发育障碍，其特征为独特的面部形态和智力残疾，常伴有小头畸形、癫痫发作和多种先天性异常，主要是心脏缺陷。据报道，该基因有超过350名患者和180种基因变异，估计发病率为每70000例出生中有1例。在此，我们报告一名哥伦比亚女性患者，她有面部形态异常、智力残疾、小头畸形、先天性心脏缺陷、甲状腺功能减退和中耳缺陷，与该基因的无义致病性变异c.2761C>T（p.Arg921Ter）相关。该病例有助于理解这种复杂且临床异质性疾病的临床并发症和自然病史，同时也提高了人们对患有先天性心脏缺陷和面部畸形的患者可能存在潜在遗传疾病的认识。
