Families

What is TRAPPC6B-related syndrome?
TRAPPC6B-related syndrome is a rare genetic condition that affects brain development. It is caused by changes (mutations) in both copies of a gene called TRAPPC6B. This gene helps cells transport important materials inside the body. When this gene does not work properly, brain development and function are affected.

How common is it?
This condition is very rare. Fewer than 50 cases have been reported in medical literature worldwide. It is more common in families where parents are related to each other (consanguineous families), particularly in Middle Eastern and South Asian populations.

How is it inherited?
TRAPPC6B-related syndrome is inherited in an autosomal recessive manner. This means a child must inherit one faulty copy of the TRAPPC6Bgene from each parent to be affected. Parents who each carry one faulty copy are called "carriers" — they do not have the condition themselves. There is a 1 in 4 chance (25%) that each child they have together could be affected. Genetic testing and counselling for your family are strongly recommended. Prenatal testing in future pregnancies is available.