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• W2093477592 abstract "Somatic mosaicism is well known in disorders where the manifestations are readily seen, e.g. the skin in neurofibromatosis I. In single gene disorders of higher frequency, especially X-linked ones, the frequency of combined germ-line and somatic mosaicism is increasingly being appreciated, e.g. Duchenne Muscular Dystrophy. Cell separation techniques; such as the fluorescence-activated cell sorter (FACS) also detect much somatic mosaicism among blood cells in disorders such as paroxysmal nocturnal hemoglobinuria. Depending on the disorder and the class of mutation, in genes for which there are sufficient numbers of patients studied, 6–20% of cases are due to somatic mutation. This update of my previous review is stimulated by the rapid application of new technologies for the study of DNA variation in disease. The results of these studies implicate somatic mutation in a greater variety of genetic diseases and a wider spectrum of tissues than have previously been shown, including heart and kidney. The classes of mutation have also expanded beyond base pair changes, insertions/deletion (indels), and short tandem repeat mutations to include copy number variants and transposon-mediated mutations. I also briefly discuss previously well-known mosaicism for chromosomal mutations. Genomic sequencing, performed on DNA from blood, shows many mutations which are conclusively somatic in origin. It is still too early to see if there is a different pattern of somatic mutation compared to germ-line mutation. Though the parameters to allow careful quantification are not yet available, it seems that the frequency of gene mutation in embryonic cells is not markedly different than that in the germ line." @default.
• W2093477592 created "2016-06-24" @default.
• W2093477592 creator A5004919410 @default.
• W2093477592 date "2010-10-01" @default.
• W2093477592 modified "2023-09-30" @default.
• W2093477592 title "Somatic gene mutation and human disease other than cancer: An update" @default.
• W2093477592 cites W123045732 @default.
• W2093477592 cites W12892762 @default.
• W2093477592 cites W1528634627 @default.
• W2093477592 cites W1582656703 @default.
• W2093477592 cites W1713385705 @default.
• W2093477592 cites W1855302692 @default.
• W2093477592 cites W1965123311 @default.
• W2093477592 cites W1967349169 @default.
• W2093477592 cites W1967437307 @default.
• W2093477592 cites W1969829231 @default.
• W2093477592 cites W1969892080 @default.
• W2093477592 cites W1971321176 @default.
• W2093477592 cites W1973197186 @default.
• W2093477592 cites W1973295687 @default.
• W2093477592 cites W1973301368 @default.
• W2093477592 cites W1973878786 @default.
• W2093477592 cites W1973982607 @default.
• W2093477592 cites W1974217358 @default.
• W2093477592 cites W1976793535 @default.
• W2093477592 cites W1978934956 @default.
• W2093477592 cites W1980566434 @default.
• W2093477592 cites W1982259145 @default.
• W2093477592 cites W1982290479 @default.
• W2093477592 cites W1983157852 @default.
• W2093477592 cites W1984495047 @default.
• W2093477592 cites W1986081255 @default.
• W2093477592 cites W1986586705 @default.
• W2093477592 cites W1989815049 @default.
• W2093477592 cites W1989981053 @default.
• W2093477592 cites W1990275904 @default.
• W2093477592 cites W1990562432 @default.
• W2093477592 cites W1992414940 @default.
• W2093477592 cites W1992450871 @default.
• W2093477592 cites W1992502425 @default.
• W2093477592 cites W1994355548 @default.
• W2093477592 cites W1996258172 @default.
• W2093477592 cites W1997032828 @default.
• W2093477592 cites W1997299880 @default.
• W2093477592 cites W1997652269 @default.
• W2093477592 cites W1998147416 @default.
• W2093477592 cites W1998723906 @default.
• W2093477592 cites W1998815718 @default.
• W2093477592 cites W1999083678 @default.
• W2093477592 cites W2004359383 @default.
• W2093477592 cites W2009269982 @default.
• W2093477592 cites W2010071160 @default.
• W2093477592 cites W2010559484 @default.
• W2093477592 cites W2013912527 @default.
• W2093477592 cites W2013936677 @default.
• W2093477592 cites W2013959668 @default.
• W2093477592 cites W2017848852 @default.
• W2093477592 cites W2018068057 @default.
• W2093477592 cites W2018653958 @default.
• W2093477592 cites W2019181219 @default.
• W2093477592 cites W2019264057 @default.
• W2093477592 cites W2020705910 @default.
• W2093477592 cites W2022449385 @default.
• W2093477592 cites W2023534141 @default.
• W2093477592 cites W2024219374 @default.
• W2093477592 cites W2026039752 @default.
• W2093477592 cites W2026362568 @default.
• W2093477592 cites W2028616086 @default.
• W2093477592 cites W2031979667 @default.
• W2093477592 cites W2033845019 @default.
• W2093477592 cites W2034883987 @default.
• W2093477592 cites W2035493030 @default.
• W2093477592 cites W2035624998 @default.
• W2093477592 cites W2038079487 @default.
• W2093477592 cites W2038222010 @default.
• W2093477592 cites W2038772247 @default.
• W2093477592 cites W2040210345 @default.
• W2093477592 cites W2041874663 @default.
• W2093477592 cites W2042042190 @default.
• W2093477592 cites W2043204105 @default.
• W2093477592 cites W2044961658 @default.
• W2093477592 cites W2049033143 @default.
• W2093477592 cites W2050161506 @default.
• W2093477592 cites W2050557699 @default.
• W2093477592 cites W2053896914 @default.
• W2093477592 cites W2053969648 @default.
• W2093477592 cites W2054125490 @default.
• W2093477592 cites W2054147448 @default.
• W2093477592 cites W2054226560 @default.
• W2093477592 cites W2055122682 @default.
• W2093477592 cites W2055142557 @default.
• W2093477592 cites W2056347820 @default.
• W2093477592 cites W2057043114 @default.
• W2093477592 cites W2058327003 @default.
• W2093477592 cites W2058550321 @default.
• W2093477592 cites W2060119956 @default.
• W2093477592 cites W2060387248 @default.
• W2093477592 cites W2062149357 @default.

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