Families

Mutations in TBC1D20 have been associated to two conditions, Warburg micro syndrome and Martsolf syndrome. Both syndromes are characterized by abnormalities of the eyes, nervous system, and endocrine system. Martsolf syndrome is rarer and milder than Warburg micro syndrome. Both syndromes are transmitted as autosomal recessive traits. This means that at conception, each sibling has a 25% risk of being affected, 50% risk of being an asymptomatic carrier and 25% risk of being neither affected nor asymptomatic carrier. In affected individuals, both copies of the TBC1D20 gene are mutated, in asymptomatic carriers only one copy of the TBC1D20 gene is mutated, in unaffected and non-carrier individuals neither copy of the gene is mutated. In affected patients, treatment is supportive and symptomatic, and involves the intervention of various specialists, including the geneticist, neurologist, ophthalmologist, nutritionist, and urologist, generally coordinated by a pediatrician. Psychological support for families is recommended and represent an important part of the care.