ArticleClinical genetics2020
Primrose syndrome: Characterization of the phenotype in 42 patients.
Article in Clinical genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 32 citations in OpenAlex.
- Erythropoietin alleviates syndrome-associated intellectual disability and autism-like behavior in Zbtb20-haploinsufficient Primrose syndrome mouse model.JCI insight · 2026Article
- De novo protein-coding gene variants in developmental stuttering.Molecular psychiatry · 2026Article
- Microdeletion 3q13.2q21.2 in a Patient Previously Diagnosed with MOMO Syndrome.Molecular syndromology · 2024Article
- A NovelMolecular syndromology · 2024Article
- Endocrine Petrified Ear: Associated Endocrine Conditions in Auricular Calcification/Ossification (A Sample-Focused Analysis).Diagnostics (Basel, Switzerland) · 2024Review
- Dysregulation of long non-coding RNA gene expression pathways in monocytes of type 2 diabetes patients with cardiovascular disease.Cardiovascular diabetology · 2024Article
- Craniofacial disorders and dysplasias: Molecular, clinical, and management perspectives.Bone reports · 2024Review
- Zinc Finger and BTB Domain-Containing 20: A Newly Emerging Player in Pathogenesis and Development of Human Cancers.Biomolecules · 2024Review
- An Infant With Primrose Syndrome: A Case Report.Cureus · 2023Article
- Role of Alpha-Fetoprotein (AFP) in Diagnosing Childhood Cancers and Genetic-Related Chronic Diseases.Cancers · 2023Review
- ZBTB20 is essential for cochlear maturation and hearing in mice.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Mitochondrial Dysfunction and Oxidative Stress in Hereditary Ectopic Calcification Diseases.International journal of molecular sciences · 2022Review
- Diabetes Out-of-the-Box: Diabetes Mellitus and Impairment in Hearing and Vision.Current diabetes reports · 2022Review
- ZBTB Transcription Factors: Key Regulators of the Development, Differentiation and Effector Function of T Cells.Frontiers in immunology · 2021Review
- Primrose syndrome: Characterization of the phenotype in 42 patients.Clinical genetics · 2020Article
- Phenotypic Differences between the Alzheimer's Disease-Related hAPP-J20 Model and HeterozygouseNeuroArticle
Corrections and comments
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Authors and funding
30 authors at 20 institutions in 9 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Primrose syndrome (PS; MIM# 259050) is characterized by intellectual disability (ID), macrocephaly, unusual facial features (frontal bossing, deeply set eyes, down-slanting palpebral fissures), calcified external ears, sparse body hair and distal muscle wasting. The syndrome is caused by de novo heterozygous missense variants in ZBTB20. Most of the 29 published patients are adults as characteristics appear more recognizable with age. We present 13 hitherto unpublished individuals and summarize the clinical and molecular findings in all 42 patients. Several signs and symptoms of PS develop during childhood, but the cardinal features, such as calcification of the external ears, cystic bone lesions, muscle wasting, and contractures typically develop between 10 and 16 years of age. Biochemically, anemia and increased alpha-fetoprotein levels are often present. Two adult males with PS developed a testicular tumor. Although PS should be regarded as a progressive entity, there are no indications that cognition becomes more impaired with age. No obvious genotype-phenotype correlation is present. A subgroup of patients with ZBTB20 variants may be associated with mild, nonspecific ID. Metabolic investigations suggest a disturbed mitochondrial fatty acid oxidation. We suggest a regular surveillance in all adult males with PS until it is clear whether or not there is a truly elevated risk of testicular cancer.
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