title: Molecular prenatal diagnosis for hereditary distal arthrogryposis type 2B.
abstract: 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.
authors: Key Laboratory of Reproductive Health of Liaoning Province, Shenyang, China.
authors: Miao
authors: M
authors: Jiang
authors: Chaoying
authors: C
authors: Bian
authors: Xuefu
authors: X
authors: Li
authors: Xiaohui
authors: X
authors: Man
authors: Wang
authors: W
authors: Ge
authors: Weitian
authors: W
authors: Han
authors: Haixia
authors: H
authors: Bao
authors: Yunqing
authors: Y
authors: Li
authors: Dongxu
authors: D
authors: Yi
authors: Yanmin
authors: Y
authors: Guan
authors: Jianxin
authors: J
authors: Li
mesh_terms: D000328:Adult; D001176:Arthrogryposis / Q000175:diagnosis* / Q000196:embryology / Q000235:genetics; D044466:Asian People / Q000235:genetics; D002681:China; D003937:Diagnosis, Differential; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis; D019210:Troponin I / Q000235:genetics
chemical_list: C518658:TNNI2 protein, human; D019210:Troponin I