Remark(s)
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there are at least seven MCPH loci, and four of the genes have been identified: MCPH1, encoding Microcephalin; MCPH3, encoding CDK5RAP2; MCPH5, encoding ASPM; and MCPH6, encoding CENPJ
majority of mutations found in MCPH1 patients harbor premature stop codons, deleting the C-terminal BRCT domains
craniosynostosis-microcephaly with chromosomal breakage(CMCB)(MIM218455) is an allelic disorder
cells derived from patients with MCPH1 mutations having the premature chromosome condensation (PCC) phenotype (PMID: 21515671)) |