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.
Department of Pathology, SUNY Upstate Medical University, 750 E. Adams St., Syracuse, NY 13210, USA. shrimpta@upstage.edu
Antony E
AE
Shrimpton
Joe J
JJ
Hoo
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