ArticleDiagnostic pathology2013
Deletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family.
Article in Diagnostic pathology, 2013. 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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17 citing papers in PubMed, 20 citations in OpenAlex.
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- The Effect ofAnimals : an open access journal from MDPI · 2023Article
- Role of Seipin in Human Diseases and Experimental Animal Models.Biomolecules · 2022Review
- Cardiac complications in inherited mitochondrial diseases.Heart failure reviews · 2021Review
- Medical management of a child with congenital generalized lipodystrophy accompanied with progressive myoclonic epilepsy: A case report.Medicine · 2019Article
- Review
- [A case report of congenital generalized lipodystrophy].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2018Article
- Exploring Seipin: From Biochemistry to Bioinformatics Predictions.International journal of cell biology · 2018Review
- High incidence of BSCL2 intragenic recombinational mutation in Peruvian type 2 Berardinelli-Seip syndrome.American journal of medical genetics. Part A · 2017Article
- Cardiac Manifestations of Congenital Generalized Lipodystrophy.Clinical diabetes : a publication of the American Diabetes Association · 2016Article
- Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum.Clinical genetics · 2016Article
- First molecular diagnosis of Donohue syndrome in Africa: novel unusual insertion/deletion mutation in the INSR gene.Molecular biology reports · 2016Article
- Recent Advances in the Molecular Genetics of Familial Hypertrophic Cardiomyopathy in South Asian Descendants.Frontiers in physiology · 2016Review
- Two novel mutations identified in familial cases with Donohue syndrome.Molecular genetics & genomic medicine · 2014Article
- Cardiac manifestations of mitochondrial disorders.Texas Heart Institute journal · 2013Article
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8 authors at 5 institutions in 2 countries.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundCongenital generalized lipodystrophy (CGL) also known as Berardinelli-Seip Congenital Lipodystrophy (BSCL) is a genetically heterogeneous disorder characterized by loss of adipose tissues, Acanthosis nigricans, diabetes mellitus, muscular hypertrophy, hepatomegaly and hypertriglyceridemia. There are four subclinical phenotypes of CGL (CGL1-4) and mutations in four genes AGPAT2, BSCL2, CAV1 and PTRF have been assigned to each type.
methodsThe study included clinical and molecular investigations of CGL disease in a consanguineous Pakistani family. For mutation screening all the coding exons including splice junctions of AGPAT2, BSCL2, CAV1 and PTRF genes were PCR amplified and sequenced directly using an automated DNA sequencer ABI3730.
resultsSequence analysis revealed a single base pair deletion mutation (c.636delC; p.Tyr213ThrfsX20) in exon 5 of BSCL2 gene causing a frame shift and premature termination codon.
conclusionMutation identified here in BSCL2 gene causing congenital generalized lipodystrophy is the first report in Pakistani population. The patients exhibited characteristic features of generalized lipodystrophy, Acanthosis nigricans, diabetes mellitus and hypertrophic cardiomyopathy. VIRTUAL SLIDES: The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1913913076864247.
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