Autosomal recessive primary microcephaly (Autosomal recessive microcephaly primary) - Gen ASPM.
Autosomal recessive primary microcephaly the (MCPH) is a disorder characterized by microcephaly. This alteration leads to intellectual disability, usually mild to moderate and does not worsen with age. Individuals most affected have delayed speech skills and language as well as motor skills. Other signs and symptoms include mild seizures, attention problems or behavior, and short stature.
Autosomal recessive primary microcephaly the may be due to mutations in at least seven genes. Mutations in the ASPM gene, located on the long arm of chromosome 1 (1q31) are the most frequent cause of the disturbance, and represents about half of all cases. This gene encodes a protein that is involved in cell division. This protein is found in cells and tissues throughout the body, being particularly important for cell division in the developing brain. The protein helps maintain orderly division of neural progenitor cells, which ultimately leads to the maturation of neurons.
They have identified more than 80 mutations in the ASPM gene causing the disease. Mutations in the gene result encoding a short, partially or completely non - functional protein, which affects cell division, especially in neural progenitor cells in the developing brain. Because the protein is found in cells throughout the body, it is unclear why mutations in the gene ASPM affect neural progenitor cells more intensely than other cell types. On one hand, it is believed that neural progenitor cells are more sensitive than other types of cells to a decrease in protein. Moreover, it is believed that other protein may be able to compensate for the loss of functional protein encoded by the ASPM gene in cells that are not brain.
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 autosomal recessive primary microcephaly, by complete PCR amplification of the exons of the gene ASPM, 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).