Molecular prenatal diagnosis for hereditary distal arthrogryposis type 2B

Prenatal Diagnosis

Volumn 27, Issue 5, 2007, Pages 468-470

  Jiang, Miao ^a   Bian, Chaoying ^a   Li, Xuefu ^a   Man, Xiaohui ^a   Ge, Wang ^a   Han, Weitian ^a   Bao, Haixia ^a   Li, Yunqing ^a   Yi, Dongxu ^a   Guan, Yanmin ^a   Li, Jianxin ^a  

^a Key Laboratory of Reproductive Health of Liaoning Province   (China)

Author keywords

Distal arthrogryposis; Prenatal diagnosis; TNNI2 gene

Indexed keywords

TROPONIN I; TNNI2 PROTEIN, HUMAN; UNCLASSIFIED DRUG;

ADULT; AMNIOCENTESIS; ARTHROGRYPOSIS; ARTICLE; CHINESE; CHORION VILLUS SAMPLING; CLINICAL ARTICLE; CONTROLLED STUDY; FAMILY STUDY; FEMALE; FETUS; FETUS ECHOGRAPHY; GENE; GENE DELETION; GENE MUTATION; GENETIC LINKAGE; HETEROZYGOSITY; HUMAN; INFERENTIAL STATISTICS; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; TNNI2 GENE; ASIAN; CASE REPORT; CHINA; DIFFERENTIAL DIAGNOSIS; GENETIC PREDISPOSITION; GENETICS; MALE; MUTATION; PEDIGREE; PREGNANCY; PRENATAL DEVELOPMENT;

ADULT; ARTHROGRYPOSIS; ASIAN CONTINENTAL ANCESTRY GROUP; CHINA; DIAGNOSIS, DIFFERENTIAL; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MUTATION; PEDIGREE; PREGNANCY; PRENATAL DIAGNOSIS; TROPONIN I;

EID: 34347254251     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.1705     Document Type: Article

References (14)

1. Bamshad M, Jorde LB, Carey JC. 1996. A revised and extended classification of the distal arthrogryposes. Am J Med Genet 65: 277-281.
2. Baty BJ, Cubberley D, Morris C, et al. 1988. Prenatal diagnosis of distal arthrogryposis. Am J Med Genet 29(3): 501-510.
3. Beals RK. 2005. The distal arthrogryposes: a new classification of peripheral contractures. Clin Orthop Relat Res 435: 203-210.
4. Bui TH, Lindholm H, Demir N, et al. 1992. Prenatal diagnosis of distal arthrogryposis type I by ultrasonography. Prenat Diagn 12(12): 1047-1053.
5. Dudkiewicz I, Achiron R, Ganel A. 1999. Prenatal diagnosis of distal arthrogryposis type 1. Skeletal Radiol 28(4): 233-235.
6. Freeman EA, Sheldon JH. 1938. Cranio-carpotarsal dystrophy: undescribed congenital malformation. Arch Dis Child 13: 277-283.
7. Hata T, Aoki S, Akiyama M, et al. 1998. Three-dimensional ultrasonographic assessment of fetal hands and feet. Ultrasound Obstet Gynecol 12(4): 225-226.
8. Jiang M, Zhao X, Han W. 2006. A novel deletion in TNNI2 causes distal arthrogryposis in a large Chinese family with marked variability of expression. Hum Genet 120(2): 238-242.
9. Jiang M, Han WT, Bian CY, et al. 2004. Report of a rare distal arthrography large family. Hereditas (Beijing) 26: 803-806.
10. Kimber E, Tajsharghi H, Kroksmark AK, et al. 2006. A mutation in the fast skeletal muscle troponin I gene causes myopathy and distal arthrogryposis. Neurology 67(4): 597-601.
11. Shrimpton AE, Hoo JJ. 2006. A TNNI2 mutation in a family with distal arthrogryposis type 2B. Eur J Med Genet 49(2): 201-206.
12. Sung SS, Brassington AME, Grannatt K, et al. 2003a. Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. Am J Hum Genet 72: 681-690.
13. Sung SS, Brassington AME, Krakowiak PA, et al. 2003b. Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B. Am J Hum Genet 73: 212-214.
14. Toydemir RM, Rutherford A, Whitby FG, et al. 2006. Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome. Nat Genet 38(5): 561-565.