Response to Lefebvre et al

Congenital scoliosis (CS) is a common vertebral malformation with incidence of up to 1 of 1000 births worldwide. Recently, TBX6 has been reported as the first disease gene for CS: about 10% of CS patients are compound heterozygotes of rare null mutations and a common haplotype composed by 3 SNPs in...

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Bibliographic Details
Published in:Clinical genetics 2017-11, Vol.92 (5), p.563-564
Main Authors: Takeda, K., Kou, I., Kawakami, N., Yasuhiko, Y., Ogura, Y., Imagawa, E., Miyake, N., Matsumoto, N., Sudo, H., Kotani, T., Nakamura, M., Matsumoto, M., Watanabe, K., Ikegawa, S.
Format: Article
Language:English
Subjects:
Bone dysplasia
DNA Mutational Analysis
Dysostosis
Exons - genetics
Haplotypes
Heterozygotes
Humans
Introns - genetics
Mutation
Mutation, Missense - genetics
Pathogenicity
Polymorphism, Single Nucleotide - genetics
Scoliosis
Scoliosis - genetics
Single-nucleotide polymorphism
Skeleton
Spine
T-Box Domain Proteins - genetics
Vertebrae
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Summary:Congenital scoliosis (CS) is a common vertebral malformation with incidence of up to 1 of 1000 births worldwide. Recently, TBX6 has been reported as the first disease gene for CS: about 10% of CS patients are compound heterozygotes of rare null mutations and a common haplotype composed by 3 SNPs in TBX6. Lefebvre et al in this journal reported that 2 patients with spondylocostal dysostosis (SCD), a rare skeletal dysplasia affecting spine and ribs also have TBX6 mutations: 1 carried the microdeletion and a rare missense variant, and another 2 rare missense variants. We investigated the pathogenicity of the 3 missense variants in SCD by a luciferase assay. The results were negative for the proposal of Lefebvre et al. We consider these 2 SCD patients are more probably compound heterozygotes of null mutations and a common risk haplotype just as CS patients with TBX6 mutations.
ISSN:0009-9163
1399-0004
DOI:10.1111/cge.13011