Novel Exonic Deletions in TTC7A in a Newborn with Multiple Intestinal Atresia and Combined Immunodeficiency

The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
Exon shuffling follows “splice frame rules.” Each exon...

Immunodeficiency disorders are conditions in which the immune system's ability to fight infectious disease and cancer is compromised or entirely absent. The immune system comprises a complex network of cells, tissues, and organs that work together to protect the body from potentially harmful invaders. When this system is deficient or not functioning properly, it leaves the body susceptible to infections, diseases, or other complications.
There are three main causes of immunodeficiency...

Although digestion of proteins, carbohydrates, and lipids may begin in the stomach, it is completed in the intestine. The absorption of nutrients, water, and electrolytes from food and drink also occurs in the intestine. The intestines can be divided into two structurally distinct organs—the small and large intestines.
Small Intestines
The small intestine is an ~7 meter-long tube with an inner diameter of just 2.5 cm. Since most nutrients are absorbed here, the inner lining of the...

The Concept of Multiple Allelism

The small intestine is primarily responsible for digestion and nutrient absorption. It spans from the pyloric sphincter to the ileocecal valve and connects to the large intestine.
The small intestine is divided into three main sections - the duodenum, jejunum, and ileum. The duodenum, approximately 25 cm long, is nearest the stomach. It acts as a 'mixing bowl,' where chyme (partially digested food) blends with digestive enzymes from the pancreas and liver. The duodenum's unique...

The large intestine is divided into three main regions: the cecum, colon, and rectum. Extending from the ileocecal valve to the anus, it frames the small intestine on three sides.
The ileocecal sphincter, a mucous membrane fold, guards the opening from the ileum to the large intestine. This valve permits material from the small intestine to pass into the large intestine. Attached to the ileocecal valve is the cecum. This small pouch, approximately 6 cm long, has a twisted, coiled tube known as...