Syndrome de Mohr-Tranebjaerg (présentation d'un patient guadeloupéen)

Mohr-Tranebjaerg syndrome is a genetic rare disease. Only 44 cases have been described in 15 families around the world. Twelve different mutations of TIMM8A gene have been identified. We described a family from Guadeloupe with 3 affected members. The first case was serious with dystonia since the age of 9 and died at 12 years old. The other 2 cases were less serious with moderate ataxia, intellectual deficit but no dystonia at the ages of 32 and 41. The mutation is a new mis-sense substitution mutation. To explain the intra-familial phenotypic variability we suggested the hypothesis of oligogenism inheritance.TOULOUSE3-BU Santé-Centrale (315552105) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF