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Article

Respiratory Involvement in HIST1H1E-Related Rahman Syndrome: A Case of Severe Mixed Apnea.

American journal of medical genetics. Part A - 1 Apr 2026

Barakat Nada, Champagne Marjolaine, Bergeron Mathieu, Dodin Philippe, Roumeliotis Nadia

Abstract excerpt

Rahman syndrome (HIST1H1E-related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal-dominant condition caused by truncating variants in the C-terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies. Although multisystem involvement has been increasingly described, respiratory manifestations remain sparsely documented. We...

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PMID: 41358577
DOI: 10.1002/ajmga.70011

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