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Further Genetic Unraveling of Persistent Tachypnea of Infancy

Christina K Rapp1, Katharina Mauss-Schwarzer1, Matthias Kappler1

  • 1Department of Paediatric Pneumology, Dr von Hauner Children's Hospital, Comprehensive Pneumology Center (CPC), German Centre for Lung Research (DZL), University of Munich, Munich, Germany.

Chest
|May 15, 2026
PubMed

Insights

Comprehensive genetic testing significantly improves diagnosis for persistent tachypnea of infancy (PTI/NEHI). Early exome sequencing is recommended, especially for patients with neurodevelopmental involvement, to reduce diagnostic delays.

Area of Science:

  • Pediatric Pulmonology
  • Medical Genetics
  • Rare Diseases

Background:

  • Childhood interstitial lung diseases (chILDs) are rare, heterogeneous, and often underdiagnosed chronic pulmonary disorders.
  • Persistent tachypnea of infancy (PTI/NEHI) is a frequent chILD form with an unknown etiology.
  • Current diagnostic approaches for PTI/NEHI may not capture the full spectrum of underlying genetic causes.

Purpose of the Study:

  • To compare the diagnostic yield of comprehensive genetic testing versus limited gene testing in PTI/NEHI patients.
  • To investigate the genetic underpinnings of PTI/NEHI and its association with other conditions.
  • To determine if clinical characteristics influence the likelihood of obtaining a genetic diagnosis.

Main Methods:

  • Exome sequencing was performed on a multicenter cohort of patients diagnosed with PTI/NEHI.
  • Genetic findings were compared between PTI/NEHI patients and a control group of non-PTI/NEHI chILD patients.
  • Patients were stratified by clinical characteristics, including neurodevelopmental comorbidity, to assess factors associated with genetic diagnosis.

Main Results:

  • Broad genetic testing identified pathogenic variants in 12 PTI/NEHI patients, with SRRM2 and NAA10 genes frequently implicated.
  • These identified genes are associated with complex disorders, including neurodevelopmental delay.
  • PTI/NEHI patients with neurodevelopmental comorbidity had a significantly higher rate of genetic diagnosis (45.8%) compared to those without (1.8%).

Conclusions:

  • PTI/NEHI may represent a phenotype of various genetic conditions, not a distinct disease entity.
  • Comprehensive genetic testing, particularly exome sequencing, can improve diagnostic yield in PTI/NEHI.
  • Early genetic evaluation, especially in cases with neurodevelopmental involvement, is crucial for reducing diagnostic delays.
Abstract

Keywords:
childhood interstitial lung diseasegenetic diagnosisgeneticsneurodevelopmental disorderneuroendocrine cell hyperplasia of infancypersistent tachypnea of infancy

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