ArticleEuropean journal of medical genetics2016
Spectrum of clinical manifestations in two young Turkish patients with congenital generalized lipodystrophy type 4.
Article in European journal of medical genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 28 citations in OpenAlex.
- Clinical and Genetic Insights into Congenital Generalized Lipodystrophy Type 4: A Case Report.Molecular syndromology · 2026Article
- Severe Insulin Resistance Syndromes: Clinical Spectrum and Management.International journal of molecular sciences · 2025Review
- Assessment of aortomesenteric distance and mesenteric and retroperitoneal adipose tissue thickness in genetic forms of lipodystrophy.Journal of endocrinological investigation · 2025Article
- Plasma membrane remodeling determines adipocyte expansion and mechanical adaptability.Nature communications · 2024Article
- Metabolic and other morbid complications in congenital generalized lipodystrophy type 4.American journal of medical genetics. Part A · 2024Article
- Hereditary severe insulin resistance syndrome: Pathogenesis, pathophysiology, and clinical management.Genes & diseases · 2023Review
- A new mutation in theFrontiers in endocrinology · 2023Review
- A deep learning-based tool for the automated detection and analysis of caveolae in transmission electron microscopy images.Computational and structural biotechnology journal · 2023Article
- Severe insulin resistance syndromes.The Journal of clinical investigation · 2021Review
- Genotype-phenotype correlations of Berardinelli-Seip congenital lipodystrophy and novel candidate genes prediction.Orphanet journal of rare diseases · 2020Article
- Current Diagnosis, Treatment and Clinical Challenges in the Management of Lipodystrophy Syndromes in Children and Young PeopleJournal of clinical research in pediatric endocrinology · 2020Review
- Unusual clinical features associated with congenital generalized lipodystrophy type 4 in a patient with a novel E211XClinical diabetes and endocrinology · 2020Article
- Review
- Phenotypic and Genetic Characteristics of Lipodystrophy: Pathophysiology, Metabolic Abnormalities, and Comorbidities.Current diabetes reports · 2018Review
- Update on Therapeutic Options in Lipodystrophy.Current diabetes reports · 2018Review
- [A case report of congenital generalized lipodystrophy].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2018Article
- Anesthesia for patients withJA clinical reports · 2018Article
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Authors and funding
11 authors at 6 institutions in 2 countries.
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Abstract
Congenital generalized lipodystrophy type 4 is an extremely rare autosomal recessive disorder. We report our clinical experience on two unrelated Turkish patients with congenital generalized lipodystrophy type 4. A 13-year-old girl (patient-1) presented with generalized lipodystrophy and myopathy. Further tests revealed ventricular and supraventricular arrhythmias, gastrointestinal dysmotility, atlantoaxial instability, lumbosacral scoliosis, and metabolic abnormalities associated with insulin resistance. A 16-year-old girl (patient-2) with congenital generalized lipodystrophy type 4 was previously reported. Here, we report on her long term clinical follow-up. She received several course of anti-arrhythmic treatments for catecholaminergic polymorphic ventricular tachycardia and rapid atrial fibrillation. An implantable cardioverter defibrillator was also placed. A homozygous PTRF mutation, c.259C > T (p.Gln87*), was identified in patient-1. Congenital generalized lipodystrophy type 4 was caused by homozygous PTRF c.481-482insGTGA (p.Lys161Serfs*41) mutation in patient-2. Our data indicate that patients with congenital generalized lipodystrophy type 4 should be meticulously evaluated for cardiac, neuromuscular, gastrointestinal and skeletal diseases, as well as metabolic abnormalities associated with insulin resistance.
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