Nestor-Guillermo progeria syndrome ... (Nestor Guillermo progeria syndrome) - Gen BANF1.
Progeria syndrome Nestor Guillermo (NGP) is a type of progeria syndrome characterized by normal development in the early years of life, followed later by the appearance of generalized lipoatrophy, severe osteoporosis and marked osteolysis. Atrophic facial subcutaneous pad and osteolysis marked the maxilla and mandible, causing a typical facial appearance with micrognatia seudosenil prominent vein pattern subcutaneous, nasal crest and Proptosis convex. Other signs may include progressive scoliosis and pulmonary hypertension. In those affected, cognitive development is normal. Patients have cardiovascular dysfunction, atherosclerosis, or metabolic abnormalities.
This process is due to mutations in the gene BANF1, located on the long arm of chromosome 11 (11q13.1). The protein encoded by this gene plays a key role in the nuclear installation, in chromatin organization, gene expression and the development of the gonads. You can powerfully compress the chromatin structure and participate in the recruitment of the membrane and chromatin decondensation during nuclear assembly. EMD and BAF are cooperative cofactors of HIV-1 infection. The association of EMD with viral DNA requires the presence of BAF and the viral integrase. The association of viral DNA with chromatin requires the presence of BAF and EMD.
We have identified a nonsense mutation 34G-A transition in the BANF1 gene, which causes a substitution of Ala12-to-Thr (A12T) in a highly conserved residue. This genetic change causes a sharp reduction in protein concentrations BAF in fibroblasts, indicating that the A12T mutation impairs protein stability.
Tests in IVAMI: in IVAMI perform detection of mutations associated with progeria Nestor-Guillermo (NGP) syndrome by complete PCR amplification of exons BANF1 gene, 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).