Title: Haploinsufficiency for Mutations in Type I Collagen Genes: Mechanisms and Clinical Effects
Abstract: The most common class of mutation that results in dominant forms of osteogenesis imperfecta (OI) is haploinsufficiency. Haploinsufficiency describes a state in which the protein products of one allele of a gene are not available for use. The most common mechanism is the introduction of a premature termination codon that results in mRNA instability and loss of ability to produce protein. The most common mechanisms by which these changes occur are as a consequence of nonsense mutation, frameshifts and splice site mutation that lead to frameshifts. Virtually all these mutations occur in COL1A1 and lead to OI type I. The same class of mutations is very rare in COL1A2, probably because they do not bring the individual to clinical attention.
Publication Year: 2013
Publication Date: 2013-08-23
Language: en
Type: book-chapter
Indexed In: ['crossref']
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Cited By Count: 4
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