What's new in neurogenetics? Focus on "primary microcephaly".
Primary microcephaly is a specific form of microcephaly that is inherited in an autosomal recessive manner. Six loci have been mapped for this condition and the genes at two of these loci have recently been identified. These include the Microcephalin gene at the MCPH1 locus and the ASPM gene at the MCPH5 locus.
Suri
Mohnish
M
Clinical Genetics Service, City Hospital, Nottingham NG5 1PB, UK.
D018797:Cell Cycle Proteins; D002508:Cephalometry; D002869:Chromosome Aberrations; D002874:Chromosome Mapping; D003598:Cytoskeletal Proteins; D005260:Female; D015870:Gene Expression / Q000502:physiology; D005808:Genes, Recessive / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005828:Genetics, Population; D006801:Humans; D007223:Infant; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics; D040641:Quantitative Trait Loci / Q000235:genetics
C467202:ASPM protein, human; D018797:Cell Cycle Proteins; D003598:Cytoskeletal Proteins; C460645:MCPH1 protein, human; D009419:Nerve Tissue Proteins