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Peer-reviewedCC BY-NC-NDBMC pediatrics

Asphyxiating thoracic dystrophy associated with IFT74 pathogenic variant: a case report.

  • Amir Abadi1
  • Banan Ateeq2
  • Hadeel Kittaneh2
  • Usra Ghanem3
  • Rami Abu Hajji2
  1. 1Faculty of Medicine and Health Sciences, An-Najah National University, Nablus, Palestine. [email protected].
  2. 2Pediatric Department, Ibn Sina Specialized hospital, Jenin, Palestine.
  3. 3Faculty of Medicine, Al-Quds University, Jerusalem, Palestine.
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Abstract

Background

Asphyxiating Thoracic Dystrophy (ATD) is a rare skeletal ciliopathy characterized by a constricted thoracic cage, short ribs, and pulmonary hypoplasia. While typically linked to pathogenic variants in IFT80 or DYNC2H1, recent genomic advancements have identified biallelic variants in IFT74 as a cause of short-rib thoracic dysplasia type 20 (SRTD20). Due to its rarity, the clinical progression and phenotypic spectrum of IFT74-related ATD remain poorly understood.Case presentation

We report the case of a term male infant presenting at birth with severe respiratory distress, macrocephaly, and a narrow chest with pectus excavatum. Initial radiographic skeletal surveys were inconclusive for classic dysplasia. Despite intensive neonatal care, the patient experienced persistent respiratory failure, recurrent atelectasis, and profound axial hypotonia. Magnetic resonance imaging (MRI) revealed no structural abnormalities. Whole exome sequencing (WES) identified a homozygous pathogenic copy number loss in the IFT74 gene. The clinical course was complicated by severe oropharyngeal dysphagia and recurrent aspiration pneumonia. Despite gastrostomy placement and maximal supportive care, the infant suffered a fatal cardiopulmonary arrest at four months of age.Conclusions

This case highlights a lethal neonatal phenotype of IFT74-related SRTD20, reinforcing the critical role of IFT74 in ciliary assembly and axonal guidance. Early WES is essential for diagnosing genetically heterogeneous skeletal dysplasias, providing accurate prognostic counseling, and guiding end-of-life discussions in cases of severe thoracic insufficiency.

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Cite

BibTeXRIS
BibTeX
@article{abadi2026asphyxiating,
  title = {{Asphyxiating thoracic dystrophy associated with IFT74 pathogenic variant: a case report.}},
  author = {Amir Abadi and Banan Ateeq and Hadeel Kittaneh and Usra Ghanem and Rami Abu Hajji},
  journal = {BMC pediatrics},
  year = {2026},
  month = aug,
  doi = {10.1186/s12887-026-07472-4},
  url = {https://europepmc.org/article/MED/42972553},
  note = {CC BY-NC-ND},
}
RIS
TY  - JOUR
TI  - Asphyxiating thoracic dystrophy associated with IFT74 pathogenic variant: a case report.
AU  - Amir Abadi
AU  - Banan Ateeq
AU  - Hadeel Kittaneh
AU  - Usra Ghanem
AU  - Rami Abu Hajji
PY  - 2026
DA  - 2026/08/04
JO  - BMC pediatrics
DO  - 10.1186/s12887-026-07472-4
UR  - https://europepmc.org/article/MED/42972553
AB  - Background  Asphyxiating Thoracic Dystrophy (ATD) is a rare skeletal ciliopathy characterized by a constricted thoracic cage, short ribs, and pulmonary hypoplasia. While typically linked to pathogenic variants in IFT80 or DYNC2H1, recent genomic advancements have identified biallelic variants in IFT74 as a cause of short-rib thoracic dysplasia type 20 (SRTD20). Due to its rarity, the clinical progression and phenotypic spectrum of IFT74-related ATD remain poorly understood.Case presentation  We report the case of a term male infant presenting at birth with severe respiratory distress, macrocephaly, and a narrow chest with pectus excavatum. Initial radiographic skeletal surveys were inconclusive for classic dysplasia. Despite intensive neonatal care, the patient experienced persistent respiratory failure, recurrent atelectasis, and profound axial hypotonia. Magnetic resonance imaging (MRI) revealed no structural abnormalities. Whole exome sequencing (WES) identified a homozygous pathogenic copy number loss in the IFT74 gene. The clinical course was complicated by severe oropharyngeal dysphagia and recurrent aspiration pneumonia. Despite gastrostomy placement and maximal supportive care, the infant suffered a fatal cardiopulmonary arrest at four months of age.Conclusions  This case highlights a lethal neonatal phenotype of IFT74-related SRTD20, reinforcing the critical role of IFT74 in ciliary assembly and axonal guidance. Early WES is essential for diagnosing genetically heterogeneous skeletal dysplasias, providing accurate prognostic counseling, and guiding end-of-life discussions in cases of severe thoracic insufficiency.
SN  - 1471-2431
ER  -