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Nuclear Mitochondrial Disorder Due to a Variant in NAXE in Two Unrelated Indian Children

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Abstract

Progressive encephalopathy with brain edema and/or leukoencephalopathy type 1 (PEBEL1) is a nuclear mitochondrial disorder involving the NAD(P)HX repair mechanism due to a NAXE variation. PEBEL1 is characterized by rapid neurologic deterioration culminating in death following high-grade fever during infancy. Currently, 23 patients from 14 families are described in the literature, with only three survivors. The authors report two living children from unrelated families with PEBEL1. Both children presented in infancy with ptosis, squint, and ataxia with no skin manifestations. Whole-exome sequencing revealed previously reported c.804_807delInsA (p.Lys270del) variation in exon 6 of NAXE. This is the first Indian report of PEBEL1.

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Acknowledgement

The authors acknowledge Dr Girisha KM, Professor & Head, Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education for his guidance and support.

Funding

Dr Girisha KM, Professor & Head, Department of Medical Genetics, Kasturba Medical College Manipal Academy of Higher Education, Manipal, Karnataka.

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Authors and Affiliations

  1. Department of Pediatrics, KS Hegde Medical Academy, NITTE (deemed to be university), Mangalore, Karnataka, 575018, India

    Swathi Sunil Rao & Rathika D. Shenoy

  2. Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka, India

    Gandham Srilakshmi Bhavani

  3. Department of Biochemical Genetics, NIRMAN, Mumbai, Maharashtra, India

    Anil B. Jalan

  4. Sri Ramachandra Institute of Higher Education & Research, Chennai, Tamil Nadu, India

    Anil B. Jalan

Authors
  1. Swathi Sunil Rao
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  2. Gandham Srilakshmi Bhavani
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  3. Anil B. Jalan
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  4. Rathika D. Shenoy
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Contributions

SSR, ABJ, and RDS were involved in management of the patient; GSB was responsible for the genetic diagnosis. All the authors were equally involved in the literature review and writing of the manuscript.

Corresponding author

Correspondence to Rathika D. Shenoy.

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Rao, S.S., Bhavani, G.S., Jalan, A.B. et al. Nuclear Mitochondrial Disorder Due to a Variant in NAXE in Two Unrelated Indian Children. Indian J Pediatr 91, 184–187 (2024). https://doi.org/10.1007/s12098-023-04495-y

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  • DOI: https://doi.org/10.1007/s12098-023-04495-y

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