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Genetic study of a patient with congenital central hypoventilation syndrome in Iran: a case report

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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.

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Fig. 1
Fig. 2

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.

Funding

Not applicable.

Author information

Authors and Affiliations

  1. Department of Medical Genetics and Molecular Biology, Faculty of Medicine, Iran University of Medical Sciences (IUMS), Shahid Hemmat Highway, Tehran, Iran

    Reihaneh Khorasanian & Marzieh Mojbafan

  2. Student Research Committee, Faculty of Medicine, Iran University of Medical Sciences, Tehran, Iran

    Reihaneh Khorasanian

  3. Department of Medical Genetics, Ali-Asghar Children’s Hospital, Zafar St., Shahid Modarres Highway, Tehran, Iran

    Marzieh Mojbafan

  4. Division of Neonatology, Ali-Asghar Children Hospital, Iran University of Medical Sciences, Tehran, Iran

    Nastaran Khosravi

Authors
  1. Reihaneh Khorasanian
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  2. Marzieh Mojbafan
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  3. Nastaran Khosravi
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Contributions

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.

Corresponding author

Correspondence to Marzieh Mojbafan.

Ethics declarations

Conflict of interest

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.

Consent for publication

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

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