ArticleClinical genetics2016
Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum.
Article in Clinical genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 29 citations in OpenAlex.
- Clinical, genetics and in silico analysis of a novel BSCL2 variant in a patient with CGL2 from Iranian Azeri Turkish ethnic group: expanding the genotypic spectrum through a comparative review.Human genome variation · 2026Article
- The Role of theInternational journal of molecular sciences · 2025Review
- The clinical approach to child and adolescent patients with lipodystrophy: a series of international case discussions.Frontiers in endocrinology · 2025Review
- Siblings With Berardinelli-Seip Congenital Lipodystrophy: Clinical Insights and Challenges.Cureus · 2024Article
- Review of childhood genetic nephrolithiasis and nephrocalcinosis.Frontiers in genetics · 2024Review
- Role of Seipin in Human Diseases and Experimental Animal Models.Biomolecules · 2022Review
- Congenital generalized lipodystrophy in two siblings from Saudi Arabia: A case report.Clinical case reports · 2022Article
- Targeted massively parallel sequencing for congenital generalized lipodystrophy.Archives of endocrinology and metabolism · 2021Article
- 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
- Congenital Generalized Lipoatrophy (Berardinelli-Seip Syndrome) Type 1: Description of NovelFrontiers in endocrinology · 2020Article
- A Patient with Berardinelli-Seip Syndrome, NovelJournal of clinical research in pediatric endocrinology · 2019Article
- Body Composition and Genetic Lipodystrophy Risk Score Associate With Nonalcoholic Fatty Liver Disease and Liver Fibrosis.Hepatology communications · 2019Article
- [A case report of congenital generalized lipodystrophy].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2018Article
- A Single ComplexFrontiers in physiology · 2018Article
- Exploring Seipin: From Biochemistry to Bioinformatics Predictions.International journal of cell biology · 2018Review
- Article
- High incidence of BSCL2 intragenic recombinational mutation in Peruvian type 2 Berardinelli-Seip syndrome.American journal of medical genetics. Part A · 2017Article
- High prevalence of Berardinelli-Seip Congenital Lipodystrophy in Rio Grande do Norte State, Northeast Brazil.Diabetology & metabolic syndrome · 2017Article
- Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey.The Journal of clinical endocrinology and metabolism · 2016Article
Corrections and comments
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Authors and funding
15 authors at 14 institutions in 11 countries.
Funding
Abstract
Congenital generalized lipodystrophy (CGL) is an autosomal recessive disorder with two major subtypes. Variants in AGPAT2 result in CGL type 1 with milder manifestations, whereas BSCL2 variants cause CGL type 2 with more severe features. Muscle hypertrophy caused by lack of adipose tissue is present early in life in CGL patients. Our aim was to investigate 10 CGL patients from 7 different countries and report genotype-phenotype relationships. Genetic analysis identified disease-causing variants in AGPAT2 (five patients) and in BSCL2 (five patients), including three novel variants; c.134C>A (p.Ser45*), c.216C>G (p.Tyr72*) in AGPAT2 and c.458C>A (p.Ser153*) in BSCL2. We also report possible novel clinical features such as anemia, breast enlargement, steatorrhea, intraventricular hemorrhage and nephrolithiasis in CGL patients. Generalized lipodystrophy and muscular hypertrophy were the only features in all of our patients. Hepatomegaly was the second common feature. Some manifestations were exclusively noticed in our CGL2 patients; hypertrichosis, high-pitched voice and umbilical hernia. Bone cysts and history of seizures were noticed only in CGL1 patients. The findings of this study expand our knowledge of genotype-phenotype correlations in CGL patients. These results have important clinical applications in diagnosis and management of the CGL patients as well as in genetic counseling in families at-risk.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.