Work

A de novo variant of RERE was identified in a patient with neurodevelopmental disorder, enuresis and scoliosis

Year: 2025

Type: article

Abstract: The RERE-related disorders are featured by neurodevelopmental problems with or without anomalies of the eyes, heart, kidneys, and genitourinary tract and hearing loss. Previous studies have revealed that the diagnosis of this disease was based on the genetic testing in identification of pathogenic variant in RERE gene. Here, we enrolled a patient presented with slight neurodevelopmental disorder, enuresis and scoliosis. Whole exome sequencing was applied to explore the genetic lesion of the patient and his parents. After data filtering, a novel variant (NM_012102.4: c.3559del p.(Glu1187Argfs*70)) of RERE was detected in the patient and was absent in his parents. Sanger sequencing confirmed that this variant was a de novo variant. Bioinformatic analysis predicted that this variant was deleterious and located in the highly evolutionarily conserved site of RERE protein. Real-time PCR confirmed that the novel variant may reduce the mRNA levels of RERE due to nonsense-mediated mRNA decay. Hence, our study identified a novel variant of RERE and reported the new phenotype of enuresis in RERE variant carriers, which may expand the variant and clinical spectrum of RERE deficiency and promote the understanding of the occurrence and clinical management of this disease.

Source: Scientific Reports

DOI: 10.1038/s41598-025-17628-4

Authors: Tian’e Cai, Cuiyun Li, Liting Chen, Hui Zeng, Chunjiao Lu, Ying Yu

Institutions: Shanghai Jiao Tong University, Shanghai Children's Medical Center

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,690