2例新患者中的相关综合征：三种新型变体。
-Related Syndrome in 2 New Patients: Three Novel Variants.
作者信息
Doğan Arı Ayşe Burcu, Türkyılmaz Ayberk, Çiftçi Pınar Nagihan, Turhan Uğur, Keçeli Avni Merter, Bayrakçı Umut Selda, Kılıç Esra
机构信息
Department of Pediatric Genetics, University of Health Sciences, Ankara Bilkent City Children's Hospital, Ankara, Turkey.
Department of Medical Genetics, Karadeniz Technical University Faculty of Medicine, Trabzon, Turkey.
出版信息
Mol Syndromol. 2025 Jul 2. doi: 10.1159/000547159.
INTRODUCTION
The Crumbs homolog-2 ()-related syndrome is an extremely rare genetic disorder characterized by congenital hydrocephalus, steroid-resistant nephrotic syndrome, and cardiac anomalies. It is caused by biallelic variants in the gene.
CASE PRESENTATION
Herein, 2 new patients are presented including congenital hydrocephalus, nephrotic syndrome, scimitar syndrome, and severe cardiac anomalies. -related syndrome was considered with the present clinical findings and whole exome sequencing revealed three novel variants in gene. Microcephaly, ventricular hypertrophy, anomalous pulmonary venous return, pulmonary sequestration, and thymus hypoplasia were presented only in the current patients. Variants in exon 2 (c.335G>A, p.Cys112Tyr) and intron 2 (c.419-2A>G) were reported only in the presented report. In addition, the first likely pathogenic splice-site variant was reported in this report.
CONCLUSION
Accurate diagnosis is crucial for increasing clinical awareness and offering genetic counseling to affected families.
引言
与crumbs同源物2（CRB2）相关的综合征是一种极其罕见的遗传性疾病，其特征为先天性脑积水、类固醇抵抗性肾病综合征和心脏异常。它由CRB2基因的双等位基因变异引起。
病例报告
本文介绍了2例新患者，包括先天性脑积水、肾病综合征、弯刀综合征和严重心脏异常。根据目前的临床发现考虑为CRB2相关综合征，全外显子组测序在CRB2基因中发现了三个新变异。小头畸形、心室肥厚、肺静脉回流异常、肺隔离症和胸腺发育不全仅在当前患者中出现。外显子2（c.335G>A，p.Cys112Tyr）和内含子2（c.419-2A>G）中的变异仅在本报告中报道。此外，本报告中还报道了首个可能致病的剪接位点变异。
结论
准确诊断对于提高临床认识和为受影响家庭提供遗传咨询至关重要。
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