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In families segregating the c.1981C > T/p.Arg661Trp mutation of RB1 the probabilities of being unaffected for germline carriers were 90.3 or 32.5% depending on if the mutation was inherited from the maternal or paternal side, respectively [68].
Despite the rarity of familial SCCOHT, the high incidence of germline mutations is important to note, as without a family history of the disease, the hereditary nature of SCCOHT may be missed, especially if the mutation was inherited from the father or acquired de novo.
In a second patient, the R269H mutation was inherited by the proband from their affected mother.
28, 30– 32 In five families, the mutation was inherited from the mother.
Analysis of parental samples showed that the mutation was inherited from the unaffected father.
Remarkably, in the 2 other families (13 and 14), the mutation was inherited from the asymptomatic mother.
Similar(37)
All the reported human MFN2 mutations act in an autosomal dominant mode of inheritance, whereas the bovine mutation is inherited recessively.
But sometimes, a single potent cancer-causing mutation is inherited and can be passed from one generation to the next.
Dr. Pritchard's test for selection rests on the fact that an advantageous mutation is inherited along with its gene and a large block of DNA in which the gene sits.
"If all of this holds up for different genes and is also true when the mutation is inherited from the mother, it will be a major step forward," said Janet Rossant, senior scientist and chief of research emeritus at the Hospital for Sick Children in Toronto.
Genomic imprinting of the maternal allele means the disease only manifests if the mutation is inherited from the father [13].
More suggestions(15)
mutation was acquired
mutation was assumed
variation was inherited
mutation was derived
mutation was described
mutation was detected
mutation was repeated
mutation was confirmed
mutation was genotyped
mutation was introduced
mutation was named
mutation was identified
mutation was labeled
mutation was created
mutation was backcrossed
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