Related Experiment Video
Updated: Sep 12, 2025
06:47
Isolation and Analysis of Plasma Lipoproteins by Ultracentrifugation
Published on: January 28, 2021
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Genotype-Phenotype Correlation in Lipoid Proteinosis: 15 Cases from Turkiye
Firdevs Dinçsoy Bir1, Zehra Oya Uyguner2, Birsen Karaman2
1Department of Medical Genetics, Ankara Etlik City Hospital, Ankara, Turkey.
Molecular Syndromology
|August 7, 2025
Summary
Lipoid proteinosis (LP) is a rare genetic disorder affecting skin and mucosa. This study found varied clinical presentations and neurological symptoms in Turkish patients, highlighting challenges in genetic counseling due to genotype-phenotype variability.
Area of Science:
- Genetics
- Dermatology
- Neurology
Background:
- Lipoid proteinosis (LP) is a rare autosomal recessive disorder characterized by skin, mucosa, and visceral thickening.
- Pathogenic variants in the ECM1 gene are associated with LP.
- Clinical manifestations include skin lesions, neurological abnormalities, and potential visceral involvement.
Purpose of the Study:
- To investigate the clinical and genetic spectrum of Lipoid proteinosis in the Turkish population.
- To analyze the correlation between genotype and phenotype in LP patients.
- To identify potential novel clinical findings associated with LP.
Main Methods:
- Inclusion of 15 individuals from 10 unrelated families with LP.
- Clinical evaluations including family history, radiological findings, and skin histopathology.
- Comprehensive genetic investigations to identify ECM1 variants.
Main Results:
- All 15 patients presented with skin and mucosal lesions.
- Neurological symptoms (33%), neuropsychiatric findings (26%), and diabetes mellitus (20%) were observed.
- Intracranial calcifications were noted in patients with epilepsy; frame-shift variants were associated with neurological/neuropsychiatric findings in some cases.
Conclusions:
- Diverse clinical presentations of LP exist within the Turkish population, even among family members with identical variants.
- The observed lack of genotype-phenotype correlation poses challenges for genetic counseling.
- Adrenal calcification is a potential, previously unlinked finding in LP.
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