A TNNI2 mutation in a family with distal arthrogryposis type 2B.
Linkage mapping in a three-generation family with a distal arthrogryposis (DA) phenotype intermediate between DA2A and DA1 indicated linkage to 11p15.5 but not 9p13. Follow up DNA sequencing of the TNNI2 gene detected a three base pair deletion that would be predicted to result in the deletion of a glutamic acid at codon position 167 (DeltaE167). This mutation, like the two previously described TNNI2 mutations, is located in the carboxy-terminal domain and thus supports the existence of a TNNI2 critical region sensitive to alteration that will give rise to DA. Physical examination of family members confirms the high degree of variability in expression amongst mutation carriers.
Shrimpton
Antony E
AE
Department of Pathology, SUNY Upstate Medical University, 750 E. Adams St., Syracuse, NY 13210, USA. shrimpta@upstage.edu
Hoo
Joe J
JJ
D001176:Arthrogryposis / Q000145:classification* / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D009154:Mutation; D010375:Pedigree; D019210:Troponin I / Q000235:genetics*
D019210:Troponin I