Abstract
Background
Congenital central hypoventilation syndrome (CCHS) is an extremely rare genetic disorder characterized by Autonomic nervous system dysregulation caused by mutations in the PHOX2B gene. Here we introduce the first genetic analysis of a one-month-old CCHS baby girl in Iran.
Methods and results
Genetic analysis of the PHOX2B gene was performed by Sanger sequencing and interpreted using the American College of Medical Genetics and Genomics (ACMG) guideline. The results showed a heterozygous duplication in exon 3, causing a polyalanine repeat expansion mutation to 27 repeats in thePHOX2B gene (20/27 genotype).The patient’s parents did not demonstrate this mutation on genetic studies.
Conclusions
According to the ACMG guideline, the mutation is pathogenic, and it was a denovo mutation in the family. The genetic study can help the family for prenatal diagnosis or pre-implantation diagnosis if the parents have gonadal mosaicism.
Data availability
The datasets used and/or analyzed during the current study are available from the corresponding author on reasonable request.
Code availability
Not applicable.
Abbreviations
- CCHS:
-
Congenital central hypoventilation syndrome
- ANS:
-
Autonomic nervous system
- PARM:
-
Polyalanine expansion repeat mutation
- NPARM:
-
Non-poly alanine repeat mutation
- ACMG:
-
American College of Medical Genetics and Genomics
- PROM:
-
Premature rupture of membranes
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Acknowledgements
We acknowledge the patient’s family for participating in this project.
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MM contributed to perform the experiments, analysis, and interpretation of data and also revised the manuscript. She led the project, supervised the study, contributed to the design of the study. RKH drafted the manuscript. NK involved in the clinical diagnosis of the patient. All authors discussed the results and approved the final manuscript.
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The authors declare that they have no competing interests.
Ethical approval
The project was approved by the ethical committee of the IUMS research committee.
Consent to participate
Prior to sampling, genetic counseling was performed, and Informed consent from the family was obtained for participating in this project.
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Prior to sampling, genetic counseling was performed, and Informed consent for publication was obtained.
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Khorasanian, R., Mojbafan, M. & Khosravi, N. Genetic study of a patient with congenital central hypoventilation syndrome in Iran: a case report. Mol Biol Rep 48, 8239–8243 (2021). https://doi.org/10.1007/s11033-021-06746-7
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DOI: https://doi.org/10.1007/s11033-021-06746-7