This condition is caused by mutations in the TIMM8A gene. This gene is located on the long arm of X chromosome (Xq22). The protein encoded by this gene localizes to the intermembrane space in mitochondria where it functions in the import of nuclear encoded proteins into the mitochondrial inner membrane. How this produces the clinical picture is not yet clear. The pattern of inheritance is X-linked recessive. Where the female is a carrier, male offspring have a 50 percent chance of inheriting the disease and female offspring have a 50 percent chance of being a carrier. Where the male is affected, male offspring do not inherit the pathogenic mutation and females are obligate carriers. TIMM8A is also referred to as DDP. Koehler determined the function of the DDP gene and concluded that the<unk> -Tranebjaerg syndrome is a novel type of mitochondrial disease that is most likely caused by a defective mitochondrial protein-import system.
Mohr–Tranebjærg syndrome
Melkersson–Rosenthal syndrome
Sensenbrenner syndrome
Dahlberg Borer Newcomer syndrome
Juberg-Hayward syndrome
Gougerot–Blum syndrome
Rosenthal–Kloepfer syndrome
König's syndrome