ArticleAmerican journal of medical genetics. Part A2017
High incidence of BSCL2 intragenic recombinational mutation in Peruvian type 2 Berardinelli-Seip syndrome.
Article in American journal of medical genetics. Part A, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 15 citations in OpenAlex.
- Carrier frequency of autosomal recessive monogenic disorders in the peruvian population.Frontiers in genetics · 2026Article
- Pain Related Quality of Life in Neurofibromatosis Type 1: A Narrative Review.Current pain and headache reports · 2024Review
- Familial Partial Lipodystrophy: Clinical Features, Genetics and Treatment in a Greek Referral Center.International journal of molecular sciences · 2023Observational
- Accelerated epigenetic aging and DNA methylation alterations in Berardinelli-Seip congenital lipodystrophy.Human molecular genetics · 2023Article
- Clusters of rare disorders and congenital anomalies in South America.Revista panamericana de salud publica = Pan American journal of public health · 2023Review
- Review of How Genetic Research on Segmental Progeroid Syndromes Has Documented Genomic Instability as a Hallmark of Aging But Let Us Now Pursue Antigeroid Syndromes!The journals of gerontology. Series A, Biological sciences and medical sciences · 2021Review
- Novel compound heterozygous variant of BSCL2 identified by whole exome sequencing and multiplex ligation‑dependent probe amplification in an infant with congenital generalized lipodystrophy.Molecular medicine reports · 2020Article
- Berardinelli-Seip Syndrome and Essential Thrombocytosis: An Unusual Association.Oman medical journal · 2020Article
- Genotype-phenotype correlations of Berardinelli-Seip congenital lipodystrophy and novel candidate genes prediction.Orphanet journal of rare diseases · 2020Article
- High prevalence of congenital generalized lipodystrophy in Piura, Peru.Intractable & rare diseases research · 2020Article
- CTC1 mutations in a Brazilian family with progeroid features and recurrent bone fractures.Molecular genetics & genomic medicine · 2018Article
- [A case report of congenital generalized lipodystrophy].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2018Article
- Congenital Generalized Lipodystrophy Type 2 in a Patient From a High-Prevalence Area.Journal of the Endocrine Society · 2017Article
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Authors and funding
6 authors at 4 institutions in 2 countries.
Funding
Abstract
Congenital generalized lipodystrophy (CGL) is a genetically heterogeneous group of disorders characterized by the absence of functional adipose tissue. We identified two pedigrees with CGL in the community of the Mestizo tribe in the northern region of Peru. Five cases, ranging from 15 months to 7 years of age, presented with generalized lipodystrophy, muscular prominence, mild intellectual disability, and a striking aged appearance. Sequencing of the BSCL2 gene, known to be mutated in type 2 CGL (CGL2; Berardinelli-Seip syndrome), revealed a homozygous deletion of exon 3 in all five patients examined, suggesting the presence of a founder mutation. This intragenic deletion appeared to be mediated by recombination between Alu sequences in introns 2 and 3. CGL2 in this population is likely underdiagnosed and undertreated because of its geographical, socio-economic, and cultural isolation.© 2016 Wiley Periodicals, Inc.
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