ArticlePeerJ2018
Family-based whole-exome sequencing identifies novel loss-of-function mutations of
Article in PeerJ, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 6 citations in OpenAlex.
- Updated genetic studies of Marfan syndrome in China.Intractable & rare diseases research · 2021Article
- A nonsense variant in FBN1 caused autosomal dominant Marfan syndrome in a Chinese family: a case report.BMC medical genetics · 2020Article
- An enormous Italian pedigree of Marfan syndrome with a novel mutation in the FBN1 gene.Clinical case reports · 2020Article
- Two Novel PathogenicGlobal medical genetics · 2020Article
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMarfan syndrome (MFS) is an inherited connective tissue disorder affecting the ocular, skeletal and cardiovascular systems. Previous studies of MFS have demonstrated the association between genetic defects and clinical manifestations. Our purpose was to investigate the role of novel genetic variants in determining MFS clinical phenotypes.
methodsWe sequenced the whole exome of 19 individuals derived from three Han Chinese families. The sequencing data were analyzed by a standard pipeline. Variants were further filtered against the public database and an in-house database. Then, we performed pedigree analysis under different inheritance patterns according to American College of Medical Genetics guidelines. Results were confirmed by Sanger sequencing.
resultsTwo novel loss-of-function indels (c.5027_5028insTGTCCTCC, p.D1677Vfs*8; c.5856delG, p.S1953Lfs*27) and one nonsense variant (c.8034C>A, p.Y2678*) of
conclusionsOur study extended and strengthened the vital role of
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