ArticleHuman mutation2018
Genotype-phenotype correlations in individuals with pathogenic RERE variants.
Article in Human mutation, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. It is linked to trial NCT02450851 (Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network), which is not on this map. Cited by 30 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network
Who cites it
30 citing papers in PubMed, 54 citations in OpenAlex.
- GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders.American journal of human genetics · 2026Article
- Investigation of psychosocial stress and DNA methylation in genes related to immune response, metabolism, and calcium signaling among African American and White middle-aged adults.Environmental epigenetics · 2026Article
- Expanding the Clinical Spectrum of RERE-Related Disorders: A Case Report of Neurodevelopmental Disorder with Brain Malformations Including Chiari Type I.Molecular syndromology · 2025Article
- RERE-AS1 as a regulator of immune modulation and therapeutic response in breast cancer.Cancer immunology, immunotherapy : CII · 2025Article
- Spatiotemporal dynamics of RERE in schizophrenia pathogenesis: insights from multi-omics and single-cell sequencing.Schizophrenia (Heidelberg, Germany) · 2025Article
- A de novo variant of RERE was identified in a patient with neurodevelopmental disorder, enuresis and scoliosis.Scientific reports · 2025Article
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- Deleterious coding variation associated with autism is consistent across populations, as exemplified by admixed Latin American populations.medRxiv : the preprint server for health sciences · 2025Article
- Correction to "Genotype-phenotype correlations in individuals with pathogenicHuman mutation · 2025Article
- Combining long-read DNA and RNA sequencing to enhance molecular understanding of structural variations leading to copy gains.Computational and structural biotechnology journal · 2025Article
- Cardiovascular Phenotypic Spectrum of 1p36 Deletion Syndrome.Journal of pediatric genetics · 2023Article
- Functional implications of paralog genes in polyglutamine spinocerebellar ataxias.Human genetics · 2023Review
- The challenges in the interpretation of genetic variants detected by genomics techniques in patients with congenital anomalies.Journal of clinical laboratory analysis · 2023Article
- Overlapping pathogenic de novo CNVs in neurodevelopmental disorders and congenital anomalies impacting constraint genes regulating early development.Human genetics · 2023Article
- Investigation into the genetics of fetal congenital lymphatic anomalies.Prenatal diagnosis · 2023Article
- Genome-wide multi-trait analysis of irritable bowel syndrome and related mental conditions identifies 38 new independent variants.Journal of translational medicine · 2023Article
- A novel variant in the HX repeat motif of ATN1 in a Chinese patient with CHEDDA syndrome and literature review.Molecular genetics & genomic medicine · 2022Review
- NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain.Molecular cell · 2021Article
- Causal influences of neuroticism on mental health and cardiovascular disease.Human genetics · 2021Article
- SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.American journal of human genetics · 2021Article
Corrections and comments
- Erratum issued
Authors and funding
30 authors at 12 institutions in 3 countries.
Funding
Abstract
Heterozygous variants in the arginine-glutamic acid dipeptide repeats gene (RERE) have been shown to cause neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH). Here, we report nine individuals with NEDBEH who carry partial deletions or deleterious sequence variants in RERE. These variants were found to be de novo in all cases in which parental samples were available. An analysis of data from individuals with NEDBEH suggests that point mutations affecting the Atrophin-1 domain of RERE are associated with an increased risk of structural eye defects, congenital heart defects, renal anomalies, and sensorineural hearing loss when compared with loss-of-function variants that are likely to lead to haploinsufficiency. A high percentage of RERE pathogenic variants affect a histidine-rich region in the Atrophin-1 domain. We have also identified a recurrent two-amino-acid duplication in this region that is associated with the development of a CHARGE syndrome-like phenotype. We conclude that mutations affecting RERE result in a spectrum of clinical phenotypes. Genotype-phenotype correlations exist and can be used to guide medical decision making. Consideration should also be given to screening for RERE variants in individuals who fulfill diagnostic criteria for CHARGE syndrome but do not carry pathogenic variants in CHD7.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.