Meckel-Gruber syndrome is a lethal, autosomal-recessive disorder classically defined by the triad of large polycystic kidneys (multiple cysts on the kidneys), occipital encephalocele (protrusion of a portion of the brain and its surrounding membranes through a defect in the back or front of the skull), and postaxial polydactyly. Affected children may also have abnormalities affecting the head and face, liver, lungs, and genitourinary tract. The leading cause of death in Meckel-Gruber syndrome is pulmonary hypoplasia (underdevelopment of the lungs) which results from oligohydramnios (having too little amniotic fluid) which is caused by kidneys which have failed to develop properly.
Research from Chapman University provides new insight into the characteristics of crucial proteins within the ciliary membrane that play vital roles in human genetic diseases and cardiovascular functions.
Mutations in a gene known as "Fritz" may be responsible for causing human genetic disorders such as Bardet-Biedl syndrome, University of Texas at Austin developmental biologist John Wallingford and Duke University human geneticist and cell biologist Nicholas Katsanis have found.
An international group of researchers has identified the genetic cause of an inherited condition that causes severe foetal abnormalities.
If two people have the same genetic disease, why would one person go blind in childhood but the other later in life or not at all? For a group of genetic diseases - so-called ciliary diseases that include Bardet-Biedl syndrome, Meckel-Gruber syndrome, and Joubert syndrome - the answer lies in one gene that is already linked to two of these diseases and also seems to increase the risk of progressive blindness in patients with other ciliary diseases. The findings are published online this week at Nature Genetics.
Researchers at Johns Hopkins have discovered that two clinically different inherited syndromes are in fact variations of the same disorder.
The discovery of a gene that causes a rare, inherited and always fatal disorder, Meckel-Gruber (MKS) syndrome, may provide researchers with the common thread to unravel the mysteries of other birth defects.
An international research collaboration led by Mayo Clinic has identified a new gene involved in causing the inherited kidney disorder, Meckel-Gruber syndrome (MKS). Children with MKS have central nervous system deformities as well as abnormal cysts in their kidneys, and usually die shortly after birth.