Late Breaking Chromosomes

摘要

For more than a century, Mendel's rules for transmission of traits have served as the paradigm of genetics in general and human genetics in particular. Thousands of Mendelian syndromes have been collected and made generally accessible via a web-based database (OMIM). Many of these syndromes have been linked to a single locus or gene, while a few turn out to be caused by mutations in several genes at distinct genomic loci (e.g. Xeroderma pigmentosum, Fanconi's anemia). In some apparently monogenic disorders, mutations in a single gene cannot completely predict the clinical phenotype. Therefore, complex mechanisms such as modifier genes, digenic and triallelic inheritance and imprinting have been proposed. Examples include cystic fibrosis, Huntington's disease, sensory neural deafness due to Connexin gene mutations, Beckwith-Wiedemann syndrome, severe myoclonic epilepsy of infancy, and autism with associated comorbidities [Gropman and Adams, 2007; Bolszak et al., 2009; van Daalen et al., 2011].