Main clinical features
Patients with mutations in ACTL6A gene have been reported to have developmental delay, speech delay and learning difficulties. Patients are small-for-age at birth but growth improves as they mature. In addition, some patients are reported to have finger and toe anomalies (such as broad toes, short and bent fingers), heart defects and abnormal development of the kidneys and genitalia.
ACTL6A-related disorder is a rare genetic disease. The exact prevalence of this disorder is yet to be defined.
The mutations are inherited in an autosomal-dominant manner. Patients have a mutation in one copy of their ACTL6A gene. If they inherited this abnormal copy from one of their parents, the recurrence risk will be 50% for these parents in every future pregnancy. The patients will also have a 50% risk to pass-on the abnormal copy of ACTL6A to any of their future children.