ArticleJournal of medical genetics2020
A novel autosomal recessive lipodystrophy syndrome due to homozygous
Article in Journal of medical genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.
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Who cites it
8 citing papers in PubMed, 1 synthesis or guideline pooled it, 10 citations in OpenAlex.
- Clinical and Molecular Heterogeneity Underlying Monogenic Causes of Pediatric Diabetes Associated to Brain Developmental Disorders.Clinical genetics · 2025Pooled it
- Familial Generalized and Partial Lipodystrophies Due to Rare Biallelic Variants inInternational journal of molecular sciences · 2026Article
- Rare Variation in LMNA Underlies Polycystic Ovary Syndrome Pathogenesis in 2 Independent Cohorts.The Journal of clinical endocrinology and metabolism · 2025Article
- Exploiting O-GlcNAc dyshomeostasis to screen O-GlcNAc transferase intellectual disability variants.Stem cell reports · 2025Article
- Review
- Effect of Occurrence of Lamin A/C (Frontiers in cardiovascular medicine · 2022Article
- Partial Lipodystrophy and LMNA p.R545H Variant.Journal of clinical medicine · 2021Article
- HomozygousClinical diabetes and endocrinology · 2020Article
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Authors and funding
6 authors at 4 institutions in 1 country.
Funding
Abstract
backgroundDespite major advances in understanding the molecular basis of various genetic lipodystrophy syndromes, some rare patients still remain unexplained. CASES: We report a novel autosomal recessive lipodystrophy affecting two sisters aged 17 and 19 years and characterised by early onset intellectual disability, and subsequent development of near-generalised loss of subcutaneous fat with diabetes mellitus, extreme hypertriglyceridemia, hepatic steatosis, short stature, clinodactyly, joint contractures, leiomyoma of uterus and cataracts in childhood. The lipodystrophy was more pronounced in the upper and lower extremities, and there was no associated muscular hypertrophy. Using whole exome sequencing in this consanguineous Hispanic pedigree, we report disease-causing homozygous p.Arg545His
conclusionOur report of this unusual familial generalised lipodystrophy syndrome adds to the pleiotropy associated with biallelic autosomal recessive
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