A TNNI2 mutation in a family with distal arthrogryposis type 2B.

Eur J Med Genet 2006 Mar-Apr;49(2):201-6. Epub 2005 Jul 11.

Department of Pathology, SUNY Upstate Medical University, 750 E. Adams St., Syracuse, NY 13210, USA.

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.

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http://dx.doi.org/10.1016/j.ejmg.2005.06.003DOI Listing
April 2009

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