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Deciphering and Imaging Pathogenesis and Cording of Mycobacterium abscessus in Zebrafish Embryos

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Mulibrey Nanism: Clinical Spectrum and Molecular Pathogenesis.

Hubert Piwar¹, Jan Pawlasek¹, Michal Ordak²

¹Department of Pharmacotherapy and Pharmaceutical Care, Faculty of Pharmacy, Medical University of Warsaw, Banacha 1 Str., 02-097 Warsaw, Poland.

International Journal of Molecular Sciences

|May 13, 2026

Summary

Mulibrey nanism, a rare genetic disorder caused by TRIM37 variants, affects multiple systems, notably causing severe growth failure and progressive heart disease. Early diagnosis and multidisciplinary care are crucial for managing this complex condition.

Keywords:

Mulibrey nanism TRIM37 short stature

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Area of Science:

Genetics and Molecular Biology
Rare Diseases
Human Physiology

Background:

Mulibrey nanism is a rare autosomal recessive disorder caused by biallelic loss-of-function variants in the TRIM37 gene.
The condition, initially identified in Finland, presents with severe prenatal growth failure, distinctive facial features, and multisystemic complications.

Purpose of the Study:

To review the clinical spectrum, molecular mechanisms, and current management of Mulibrey nanism.
To highlight areas for future research in understanding and treating this disorder.

Main Methods:

Comprehensive literature review of Mulibrey nanism.
Analysis of recent advances in understanding TRIM37 gene function and its cellular pathways.
Synthesis of current clinical management strategies.

Main Results:

Mulibrey nanism involves progressive cardiovascular disease (pericarditis, cardiomyopathy), metabolic dysfunction (insulin resistance, diabetes), skeletal abnormalities, and increased tumor risk.
TRIM37's role in mTORC1, TFEB signaling, autophagy, and centrosome integrity provides insights into disease pathology.
Management requires a multidisciplinary approach focusing on cardiac, metabolic, and oncologic surveillance.

Conclusions:

Early recognition and management of cardiac disease, metabolic complications, and cancer risk are vital for improving patient outcomes.
Continued research into TRIM37 function is essential for developing targeted therapies.
Prognosis is variable but can be improved through timely diagnosis and consistent surveillance.