2016
DOI: 10.1371/journal.pone.0155908
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Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing

Abstract: Congenital contractural arachnodactyly (CCA, OMIM 121050), also known as Beals-Hecht syndrome, is an autosomal dominant disorder of connective tissue. CCA is characterized by arachnodactyly, dolichostenomelia, pectus deformities, kyphoscoliosis, congenital contractures and a crumpled appearance of the helix of the ear. The aim of this study is to identify the genetic cause of a 4-generation Chinese family of Tujia ethnicity with congenital contractural arachnodactyly by exome sequencing. The clinical features … Show more

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Cited by 11 publications
(11 citation statements)
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“…A prioritization scheme similar to those described in recent studies was used to identify proband pathogenic variants . Only a homozygous missense variant, c.1627G>A (p.V543M), in the GNE gene (NM_001128227, hGNE2 isoform NP_001121699) was suspected as the proband pathogenic variant.…”
Section: Resultsmentioning
confidence: 99%
See 1 more Smart Citation
“…A prioritization scheme similar to those described in recent studies was used to identify proband pathogenic variants . Only a homozygous missense variant, c.1627G>A (p.V543M), in the GNE gene (NM_001128227, hGNE2 isoform NP_001121699) was suspected as the proband pathogenic variant.…”
Section: Resultsmentioning
confidence: 99%
“…A prioritization scheme similar to those described in recent studies was used to identify proband pathogenic variants. 13,18,19…”
Section: Gne Mutation Screeningmentioning
confidence: 99%
“…It is noteworthy that meta-analysis in the Thai population discovered novel SLE susceptible variants on FBN2. The FBN2 allele is located on a chromosome 5 encoded protein called fibrillin-2 [62]. Fibrillins-2 is one of the glycoprotein components incorporated extracellularly on microfibrils and is essential in bone, muscle, and extracellular matrix formation [63].…”
Section: Discussionmentioning
confidence: 99%
“…It is noteworthy that meta-analysis in the Thai population discovered novel SLE susceptible variants on FBN2. The FBN2 allele is located on a chromosome 5 encoded protein called brillin-2 [60]. Fibrillins-2 is one of the glycoprotein components incorporated extracellularly on micro brils and is essential in bone, muscle, and extracellular matrix formation [61].…”
Section: Discussionmentioning
confidence: 99%