ArticleJournal of medical genetics2004
Mulibrey nanism: clinical features and diagnostic criteria.
Article in Journal of medical genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed, 87 citations in OpenAlex.
- TRIM37 interacts with TRIM28 to maintain primordial germ cell identity during migration.Cell research · 2026Article
- Mulibrey Nanism: Clinical Spectrum and Molecular Pathogenesis.International journal of molecular sciences · 2026Review
- Novel Missense Variants inCardiology and cardiovascular medicine · 2026Article
- Skeletal Phenotype in Mulibrey Nanism, A Monogenic Skeletal Dysplasia With Fibrous Dysplasia.Clinical genetics · 2025Article
- Subtle echocardiogram findings requiring further investigation: restrictive cardiomyopathy in a rare genetic condition.BMJ case reports · 2024Article
- The TRIM37 variants in Mulibrey nanism patients paralyze follicular helper T cell differentiation.Cell discovery · 2023Article
- Mulibrey nanism and immunological complications: a comprehensive case report and literature review.Frontiers in immunology · 2023Review
- It's a TRIM-endous view from the top: the varied roles of TRIpartite Motif proteins in brain development and disease.Frontiers in molecular neuroscience · 2023Review
- Whole Exome Sequencing Identified the Causative Mutation in a 4-Year-Old Female with Mulibrey Nanism: A Case Report.Iranian journal of public health · 2022Article
- Genetic spectrum of prenatally diagnosed skeletal dysplasias in a Finnish patient cohort.Prenatal diagnosis · 2022Article
- Liver pathology and biochemistry in patients with mutations in TRIM37 gene (Mulibrey nanism).Liver international : official journal of the International Association for the Study of the Liver · 2022Article
- Wilms tumor with Mulibrey Nanism: A case report and review of literature.Cancer reports (Hoboken, N.J.) · 2022Review
- Cardiomyopathies in Children and Systemic Disorders When Is It Useful to Look beyond the Heart?Journal of cardiovascular development and disease · 2022Review
- Pericardial Constriction and Myocardial Restriction in Pediatric Mulibrey Nanism: A Complex Disease With Diastolic Dysfunction.CJC open · 2022Article
- TRIM37: a critical orchestrator of centrosome function.Cell cycle (Georgetown, Tex.) · 2021Review
- ROS/NF-κB Signaling Pathway-Mediated Transcriptional Activation of TRIM37 Promotes HBV-Associated Hepatic Fibrosis.Molecular therapy. Nucleic acids · 2020Article
- CD4Frontiers in immunology · 2020Article
- Article
- TRIM37, a novel E3 ligase for PEX5-mediated peroxisomal matrix protein import.The Journal of cell biology · 2017Article
- Renal findings in patients with Mulibrey nanism.Pediatric nephrology (Berlin, Germany) · 2017Article
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mulibrey nanism (MUL) is an autosomal recessive disease caused by mutations in the TRIM37 gene encoding the peroxisomal TRIM37 protein of unknown function. In this work, we analysed the clinical characteristics of 85 Finnish patients with MUL, most of whom were homozygous for the Finn major mutation of TRIM37. The patients' hospital records from birth to the time of the diagnosis at age 0.02-52 years (median 2.1 years) were retrospectively analysed. All except four of the patients (95%) had a prenatal onset growth failure without postnatal catch up growth. The mean length standard deviation score (SDS) was -3.1 and -4.0 at birth and at diagnosis, respectively. In infancy, feeding difficulties, and respiratory tract infections were the most common problems. Congestive heart failure and pericardial constriction were diagnosed during infancy in 12% and 6% of the patients, respectively. At the time of the diagnosis, characteristic craniofacial features of scaphocephaly, facial triangularity, high and broad forehead, and low nasal bridge were evident in over 90% of the patients. In addition, practically all patients were gracile and had thin extremities. Other findings included a peculiar high-pitched voice (96%), yellowish dots in ocular fundi (79%), cutaneous naevi flammei (65%), hepatomegaly (45%), and fibrous dysplasia of long bones (25%). Mild muscular hypotonicity (68%) was the only neurological abnormality. The clinical features of the Finnish patients with MUL formed a distinct entity. The most consistent findings were growth failure and characteristic craniofacial features. However, organ manifestations varied considerably in early childhood. Based on these findings, we propose new diagnostic criteria for MUL.
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