August 12, 2025Human Molecular Genetics

A synonymous single nucleotide variant on the FAM20C gene causes non-lethal Raine syndrome

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Authors

BTBayram Toraman İEİdris Er BKBurak Kaan Kasap

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Overview

Analysis of a synonymous variant in FAM20C shows altered splicing in patients with non-lethal Raine syndrome, indicating a novel mechanism of disease.

Key Points

Patients with a synonymous variation in fAM20C exhibit non-lethal raine syndrome, suggesting a new understanding of this disorder.
The c.1071A > G transition results in a 12 amino acid insertion that disrupts proper Golgi localization of the protein.
Functional analysis demonstrated that despite successful dimerization, the variant FAM20C protein failed to be secreted from cells.
These findings highlight the importance of splicing events in the molecular pathogenesis of raine syndrome, warranting further investigations.

Cite This Study

Toraman et al. (2025) studied this question.

synapsesocial.com/papers/68a3633d0a429f7973329efc https://doi.org/10.1093/hmg/ddaf129

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August 12, 2025Human Molecular Genetics

A synonymous single nucleotide variant on the FAM20C gene causes non-lethal Raine syndrome

View Full Paper

Ask AI

Bookmark

Authors

BTBayram Toraman İEİdris Er BKBurak Kaan Kasap

Discussion

Member takes

Overview

Analysis of a synonymous variant in FAM20C shows altered splicing in patients with non-lethal Raine syndrome, indicating a novel mechanism of disease.

Key Points

Patients with a synonymous variation in fAM20C exhibit non-lethal raine syndrome, suggesting a new understanding of this disorder.
The c.1071A > G transition results in a 12 amino acid insertion that disrupts proper Golgi localization of the protein.
Functional analysis demonstrated that despite successful dimerization, the variant FAM20C protein failed to be secreted from cells.
These findings highlight the importance of splicing events in the molecular pathogenesis of raine syndrome, warranting further investigations.

Cite This Study

Toraman et al. (2025) studied this question.

synapsesocial.com/papers/68a3633d0a429f7973329efc https://doi.org/10.1093/hmg/ddaf129

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