Key result
Molecular prenatal diagnosis using TNNI2 gene deletion detection and linkage analysis was successfully performed on 3 high-risk fetuses for distal arthrogryposis type 2B.
Why the study?
Can molecular prenatal diagnosis detect TNNI2 mutations in fetuses at high risk for distal arthrogryposis type 2B?
Case Report (n=3)
Can molecular prenatal diagnosis detect TNNI2 mutations in fetuses at high risk for distal arthrogryposis type 2B?
This study demonstrates the feasibility of molecular prenatal diagnosis for distal arthrogryposis type 2B using targeted genetic testing.
May enable earlier genetic prenatal DA diagnosis; leaves open validation in larger prospective cohorts.
Autosomal dominant distal arthrogryposes (DAs) are a group of muscle diseases characterized by congenital contractures of the limbs. Currently, prenatal diagnosis of DAs depends upon ultrasound examination during late gestation. Recently, five genes encoding fast switch proteins located at 9p13.2, 11p15.5 and 17q13.1 were identified. These included TPM2, TNNI2/TNNT3, and MYH3/MYH8. Last year, we discovered a novel heterozygous mutation c.523_525delAAG (p.K175del) in the TNNI2 gene, which encodes the isoform of troponinI, in a seven-generation Chinese family affected with distal arthrogryposis type 2B (DA2B). Here, we report the molecular prenatal diagnosis of 3 high-risk fetuses of two women in the family by two-point linkage inferential analysis and deletion detection of the TNNI2 gene with chorionic villus sampling (CVS) or amniocentesis. To our knowledge, this is the first description of molecular prenatal diagnosis for DAs.
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Jiang et al. (2007) conducted a case report in Distal arthrogryposis type 2B (DA2B) (n=3). Molecular prenatal diagnosis (TNNI2 gene deletion detection and linkage analysis) was evaluated on Molecular prenatal diagnosis of TNNI2 mutation. Molecular prenatal diagnosis using TNNI2 gene deletion detection and linkage analysis was successfully performed on 3 high-risk fetuses for distal arthrogryposis type 2B.
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