CRB2-Related Syndrome in 2 New Patients: Three Novel Variants.

IF 0.9 4区医学 Q4 GENETICS & HEREDITY

Molecular Syndromology Pub Date : 2025-07-02 DOI:10.1159/000547159

Ayşe Burcu Doğan Arı, Ayberk Türkyılmaz, Nagihan Çiftçi Pınar, Uğur Turhan, Avni Merter Keçeli, Umut Selda Bayrakçı, Esra Kılıç

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引用次数: 0

Abstract

Introduction: The Crumbs homolog-2 (CRB2)-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 CRB2 gene.

Case presentation: Herein, 2 new patients are presented including congenital hydrocephalus, nephrotic syndrome, scimitar syndrome, and severe cardiac anomalies. CRB2-related syndrome was considered with the present clinical findings and whole exome sequencing revealed three novel variants in CRB2 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.

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2例新患者的crb2相关综合征：三个新变体

CRB2相关综合征是一种极其罕见的遗传性疾病，以先天性脑积水、类固醇抵抗性肾病综合征和心脏异常为特征。它是由CRB2基因的双等位变异引起的。病例介绍：本文报告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。考虑CRB2相关综合征与目前的临床发现和全外显子组测序显示三个新的CRB2基因变异。小头畸形、心室肥大、肺静脉回流异常、肺隔离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）的变异仅在本报告中报道。此外，本报告还报道了第一个可能致病的剪接位点变异。结论：准确的诊断对提高临床认识和向患者家庭提供遗传咨询至关重要。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Molecular Syndromology Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

1.70

自引率

9.10%

发文量

期刊介绍： ''Molecular Syndromology'' publishes high-quality research articles, short reports and reviews on common and rare genetic syndromes, aiming to increase clinical understanding through molecular insights. Topics of particular interest are the molecular basis of genetic syndromes, genotype-phenotype correlation, natural history, strategies in disease management and novel therapeutic approaches based on molecular findings. Research on model systems is also welcome, especially when it is obviously relevant to human genetics. With high-quality reviews on current topics the journal aims to facilitate translation of research findings to a clinical setting while also stimulating further research on clinically relevant questions. The journal targets not only medical geneticists and basic biomedical researchers, but also clinicians dealing with genetic syndromes. With four Associate Editors from three continents and a broad international Editorial Board the journal welcomes submissions covering the latest research from around the world.