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Research Journal of Medical Sciences

ISSN: Online 1993-6095
ISSN: Print 1815-9346
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Rare Occurrence DNAJB4 Gene Mutation Leads to Early Respiratory Failure in an Indian Neonate

Bhavya Satishkumar Patel, Saumitra Akash Singh, Binoy Shah, Ashish Mehta, Manish Shah, Dhiren Thakkar, Maitrey Patel and Vishal Gohil
Page: 460-462 | Received 25 Jan 2024, Published online: 06 Mar 2024

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https://doi.org/10.36478/10.36478/makrjms.2024.5.460.462

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Abstract

DNAJ/HSP40 co‐chaperones are integral to the chaperone network, bind client proteins, and recruit them to HSP70 for folding. DNAJB4 belongs to the evolutionarily conserved DNAJ/HSP40 protein family. Northern blot analysis detected its high expression in skeletal muscle, heart and pancreas and lower expression in the brain, placenta and liver. Loss of function mutation of the DNAJB4 gene can lead to hereditary myopathy and early respiratory failure. Clinical description: A 13‐day‐old neonate at vaginally delivered term gestation was admitted with us with a history of meconium aspiration requiring respiratory support and neonatal seizure. In 75 days of NICU stay, the patient required invasive ventilatory support on most days with five extubation failures throughout the stay. To rule out causes of prolonged mechanical ventilation neonate was investigated with basic blood investigations and radiological scans. MRI of the brain and spine turned out to be normal. Apart from antibiotics‐responsive hospital‐acquired infection, the neonate’s blood investigations were normal. To diagnose the genetic possibility whole EXOME sequencing was done turns out to be positive for a heterozygous mutation in the DNAJB4 gene. Management and outcome: The patient received critical neonatal care with invasive respiratory support and later on had a tracheostomy. Hospital‐acquired sepsis was treated with intravenous antibiotics. Intermittent five extubation trials were given. The patient expired on the 79th day of life with respiratory failure. This case highlights the infrequent genetic cause of early respiratory failure with prolonged ventilation in the neonatal age group, as respiratory and cardiac causes are usually more common among them.

How to cite this article:

Bhavya Satishkumar Patel, Saumitra Akash Singh, Binoy Shah, Ashish Mehta, Manish Shah, Dhiren Thakkar, Maitrey Patel and Vishal Gohil. Rare Occurrence DNAJB4 Gene Mutation Leads to Early Respiratory Failure in an Indian Neonate.
DOI: https://doi.org/10.36478/10.36478/makrjms.2024.5.460.462
URL: https://www.makhillpublications.co/view-article/1815-9346/10.36478/makrjms.2024.5.460.462