Mainzer-Saldino syndrome ... (Mainzer-Saldino syndrome) - Gen IFT140.
Syndrome Mainzer-Saldino is a disorder characterized by kidney disease, eye problems, and skeletal abnormalities. Affected individuals have chronic kidney disease that starts in childhood and worsens over time. The rate at which kidney disease gets worse varies, but in most affected individuals eventually causes kidney failure. For its part, the age of onset of retinal degeneration may vary. While some affected individuals are blind or have severe vision problems in children, in others retinal degeneration begins in childhood, but part of the vision remains in early adulthood. Loss of vision in these individuals resembling the cone dystrophy and retinitis pigmentosa. Referring to skeletal abnormalities, these may include ends of epiphysis and phalanges cone shaped, abnormalities thigh bones in epiphyseal and metaphyseal, short stature, craniosynostosis and a small ribcage.
A small number of people with Mainzer-Saldino syndrome have additional problems affecting other organs. These can include liver fibrosis, cerebellar ataxia and mild mental retardation.
This process is due to mutations in the gene IFT140, located on the short arm of chromosome 16 (16p13.3). This gene encodes a protein that is involved in the formation and maintenance of cilia. The cilia are important for the structure and function of many cell types, including cells in the kidneys, liver and brain. Photoreceptors in the retina also contain cilia, which are essential for normal vision. In addition, the cilia play a role in bone development, although the mechanism is not well understood. The intraflagellar transport is essential for assembly and maintenance of these cell structures. During intraflagellar transport, cells IFT particles used to transport materials to and from the ends of the cilia. IFT particles are composed of encoded from related genes that belong to the family of genes IFT proteins. IFT each particle is composed of two groups of proteins IFT: A complex which includes at least 6 proteins, and the B complex, including at least 15 proteins. The protein encoded from the gene IFT140 part of the complex A IFT (IFT-A).
They have identified at least 9 genetic mutations in people with IFT140 Mainzer-Saldino syndrome. These genetic changes can change the form of the protein IFT140 or interactions with other proteins IFT, which is likely to affect assembly IFT-A and the development or maintenance of cilia. As a result, less cilia can be present or functional, which affects many organs and tissues in the body. Disturbances like syndrome Mainzer-Saldino which are due to problems with cilia involve skeletal bone abnormalities called ciliopathies.
This disease is inherited in an autosomal recessive pattern, that is, both copies of the gene in every cell must have mutations for alteration is expressed. The parents of an individual with an autosomal recessive disease have a copy of the mutated gene, but usually show no signs and symptoms of the disease.
Tests in IVAMI: in IVAMI perform detection of mutations associated with Mainzer-Saldino syndrome by complete PCR amplification of the gene exons IFT140, and subsequent sequencing.
Samples recommended: EDTA blood collected for separation of blood leukocytes, or impregnated sample card with dried blood (IVAMI may mail the card to deposit the blood sample).