A novel de novo mutation in COL2A1 gene associated with fetal skeletal dysplasia.
Fu-Chieh Chu,Ling-Yien Hii,Tai-Ho Hung,Liang-Ming Lo,T'sang-T'ang Hsieh,Steven W. Shaw,Steven W. Shaw +6 more
TLDR
In this article, a 38-year-old multipara woman showed a normal karyotype and bilateral femur and humerus length symmetrically shortened after 20 weeks due to a de novo mutation in COL2A1, causing Stickler syndrome type 1.Abstract:
Objective Skeletal dysplasias, caused by genetic mutations, are a heterogenous group of heritable disorders affecting bone development during fetal life. Stickler syndrome, one of the skeletal dysplasias, is an autosomal dominant connective tissue disorder caused by abnormal collagen synthesis owing to a genetic mutation in COL2A1. Case report We present the case of a 38-year-old multipara woman whose first trimester screening showed a normal karyotype. However, the bilateral femur and humerus length symmetrically shortened after 20 weeks. Next-generation sequencing for mutations in potential genes leading to skeletal dysplasia detected a novel de novo mutation (c.1438G > A, p.Gly480Arg) in COL2A1, causing Stickler syndrome type 1. This pathogenic mutation might impair or destabilize the collagen structure, leading to collagen type II, IX, and XI dysfunction. Conclusion We identified a novel de novo mutation in COL2A1 related to the STL1 syndrome and delineated the extent of the skeletal dysplasia disease spectrum.read more
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De novo mutation in COL2A1 leads to lethal foetal skeletal dysplasia.
TL;DR: In this paper, a de novo mutation in human COL2A1 related to lethal skeletal dysplasia and expanded the mutation spectrum of type II collagenopathies was identified using bioinformatics, zebrafish models, and assisted reproduction technology (ART) combined with preimplantation genetic testing for monogenic diseases.
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Whole-genome resequencing infers genomic basis of giant phenotype in Siamese fighting fish ( Betta splendens).
TL;DR: In this article , the authors re-sequenced and analyzed the genomes of 54 fighting fish and found that three genomic regions at chr1, chr9, and chr11 were associated with the giant phenotype.
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