Apuril Velgara Erika Solansh, Mariani Milena, Torella Annalaura, Musacchia Francesco, Nigro Vincenzo, Selicorni Angelo
Department of Pediatric, Mariani Foundation Center for Fragile Child ASST-Lariana, Sant'Anna Hospital, San Fermo della Battaglia (Como), Italy.
Department of Precision Medicine, University "Luigi Vanvitelli", Naples, Italy.
Am J Med Genet A. 2022 Jun;188(6):1661-1666. doi: 10.1002/ajmg.a.62710. Epub 2022 Mar 3.
Cantù syndrome (CS) is a rare multisystemic disorder, characterized by congenital hypertrichosis, macrocephaly, facial dysmorphisms, cardiomegaly, vascular, and skeletal anomalies. From the cognitive point of view, most of the patients show a mild speech delay and a few of them present intellectual disability and learning difficulties. To date, most CS-reported cases are caused by heterozygous ABCC9 gene mutations. Only three patients with CS and heterozygous KCNJ8 gene variants have been reported. The authors here present the fourth case of CS with a variant in KCNJ8 in a 6-month-old baby. Diagnosis was reached through Trio-Whole Exome analysis that revealed a de novo missense variant in KCNJ8.
坎图综合征（CS）是一种罕见的多系统疾病，其特征为先天性多毛症、巨头畸形、面部畸形、心脏肥大、血管和骨骼异常。从认知角度来看，大多数患者存在轻度语言发育迟缓，少数患者有智力障碍和学习困难。迄今为止，大多数报道的CS病例是由ABCC9基因杂合突变引起的。仅有3例CS患者伴有KCNJ8基因变异的报道。本文作者报告了第4例患有KCNJ8基因变异的6个月大婴儿的CS病例。通过三联全外显子组分析做出诊断，该分析揭示了KCNJ8基因的一个新生错义变异。
