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A novel deafness/dystonia peptide gene mutation that causes dystonia in female carriers of Mohr‐Tranebjaerg syndrome

2001; Wiley; Volume: 50; Issue: 4 Linguagem: Inglês

10.1002/ana.1160

1531-8249

Russell H. Swerdlow, G. Frederick Wooten,

Congenital heart defects research

Abstract Sex‐linked male deafness and dystonia (Mohr‐Tranebjaerg syndrome) arises from mutation of the deafness/dystonia peptide (DDP) gene. We describe a novel guanine deletion at nucleotide 108 of the DDP gene in a family with Mohr‐Tranebjaerg syndrome, which terminates this 97–amino acid protein at codon 25. Unlike previously reported kindreds, carrier females in this family also manifest dystonias, including torticollis and writer's cramp. A family history of male deafness should alert clinicians to the possibility of DDP mutation in women with focal dystonias.