A novel CEP57 gene mutation in mosaic variegated aneuploidy syndrome 2: case report
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Abstract
Objectives
Mosaic variegated aneuploidy syndrome 2 (MVA2) is an uncommon autosomal recessive genetic condition caused by mutations in the CEP57 gene. It is characterized by intrauterine growth restriction, severe short stature, facial dysmorphism, and skeletal abnormalities. Most affected individuals also show congenital cardiac defects and delayed development. To date, only 16 patients have been reported.
Case presentation
We report a 6-year-old girl of consanguineous Moroccan parents, presenting with severe short stature, clinodactyly, and dysmorphic facial features including prominent forehead, triangular face, micro-retrognathia, and low set ears. Neurodevelopment was initially normal, but mild intellectual disability was then noted. Genetic testing including karyotype, array-CGH, and Silver–Russell syndrome were normal. Finally, whole exome sequencing revealed a homozygous c.834_844dupCAATGTTCAGC variant in CEP57, classified as likely pathogenic. Familial segregation confirmed heterozygosity in both parents and siblings.
Conclusions
This report describes a novel homozygous variant of CEP57, expanding the clinical and genetic spectrum of MVA2 syndrome. Although, karyotype should be firstly requested if MVA is suspected, whole exome sequencing is crucial. Growth hormone therapy shows limited response in this syndrome, and the association with cancer predisposition should be further studied.
Acknowledgments
The authors are grateful to the patient and family members for their cooperation.
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Research ethics: Not applicable.
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Informed consent: Written informed consent was obtained from the patient’s parents for publication of the clinical details and accompanying images.
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Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
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Use of Large Language Models, AI and Machine Learning Tools: AI tools were used solely for language editing and stylistic suggestions. All text was written, reviewed, and approved by the authors, who are fully responsible for the content.
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Conflict of interest: The authors state no conflict of interest.
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Research funding: None declared.
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Data availability: All data supporting the findings of this case report, including clinical information and images, are included within the article. The genetic data generated during the study are not publicly available due to patient confidentiality but can be made available from the corresponding author upon reasonable request and with permission from the patient’s parents.
References
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