Clinical features
RIC1 is a gene that helps produce a protein that is important for the proper functioning of various processes in the body, particularly in the development of facial features, teeth, and brain. Sometimes, individuals can have two copies of a faulty RIC1 gene, leading to a condition known as CATIFA syndrome. People with CATIFA syndrome can experience a range of symptoms, including Cleft lip (a split or opening in the upper lip that can affect appearance and function), Cataracts, Tooth abnormalities: Problems with the development, eruption, or alignment of teeth, Impaired intellectual development (Challenges with learning and cognitive functions), Facial dysmorphism (Differences in facial features from typical appearances), and Attention-deficit hyperactivity disorder (ADHD; a disorder characterized by difficulty with attention, hyperactivity, and impulsiveness). In addition to these primary symptoms, some individuals with CATIFA syndrome may also have Microcephaly (A smaller-than-normal head ), asthma, Strabismus (Misalignment of the eyes), and a clumsy or unsteady walking pattern due to low muscle tone.
These features can vary in severity from person to person, making CATIFA syndrome a complex and unique condition for each affected individual.
Prevalence
Largely unknown due to limited data.
Inheritance
Mutations of this gene can be passed on to the next generation in an autosomal recessive manner. This means that if both parents carry a mutation involving this gene (usually without displaying the disease), there is a greater chance that their children are going to inherit the mutations from both parents and display the disease. This is especially important to consider in consanguineous marriage, where the chance of both parents having the same mutation and passing it is greater.
RIC1