Brief Communication | Published:

Periodic breathing in patients with NALCN mutations

Journal of Human Geneticsvolume 63pages10931096 (2018) | Download Citation

Abstract

Biallelic mutations in NALCN are responsible for infantile hypotonia with psychomotor retardation and characteristic facies 1 (IHPRF1). Common features of this condition include severe neonatal-onset hypotonia and profound global developmental delay. Given the rarity of this condition, long-term natural history studies are limited. Here, we present a 9-year-old male with a homozygous nonsense mutation in NALCN (c.3910C>T, p.Arg1304X) leading to profound intellectual disability, seizures, feeding difficulties, and significant periodic breathing. Breathing irregularity was also reported in three previous patients; similar to our patient, those children demonstrated periodic breathing that was characterized by alternating apneic periods with deep, rapid breathing. As the phenotype associated with NALCN mutations continues to be delineated, attention should be given to abnormal respiratory patterns, which may be an important distinguishing feature of this condition.

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Author information

Affiliations

  1. Department of Genetics, Children’s Hospital of Eastern Ontario, Ottawa, ON, Canada

    • Danielle K. Bourque
    •  & David A. Dyment
  2. Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada

    • David A. Dyment
    • , Ian MacLusky
    • , Kristin D. Kernohan
    •  & Hugh J. McMillan
  3. Division of Respirology, Children’s Hospital of Eastern Ontario, Ottawa, ON, Canada

    • Ian MacLusky
  4. Division of Neurology, Children’s Hospital of Eastern Ontario, Ottawa, ON, Canada

    • Hugh J. McMillan

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Consortia

  1. Care4Rare Canada Consortium

    Conflict of interest

    The authors declare that they have no conflict of interest.

    Corresponding author

    Correspondence to Hugh J. McMillan.

    About this article

    Publication history

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    DOI

    https://doi.org/10.1038/s10038-018-0484-1

    Further reading

    • Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)

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