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Table. 4.

Table. 4.

Review of previous reports on sequence variants of the NF1 gene

Country Number of individuals Methods Detected numbers Types of variants Reference
Korea 78 individuals from 60 families DNA sequencingmRNA sequencingMLPAFISH 52 variants in 78 individuals Missense 23.1%Nonsense 34.6%Splicing 21.2%Indel 13.5%Large del 7.7% [13]
Spain 474 unrelated individuals DNA sequencingmRNA sequencingmRNA SSCP/HD 142 variants in 189 individuals Missense 8%Nonsense 9%Splicing 31%Frameshift 50%Others 2% [16]
China 107 unrelated individuals DNA sequencingDHPLCmicrosatellite genotypingQ-PCRRT-PCR 68 individuals Missense 16.2%Nonsense 29.4%Splice site 13.2%Frameshift 33.8%Large del 7.4% [17]
UK 169 unrelated individuals DNA sequencingDHPLC MLPAFISH 88 variants in 109 individuals Missense 15%Nonsense 27%Splicing 19%Frameshift 27%Large del 9%Others 3% [18]
France 565 unrelated individuals DNA sequencingmRNA sequencingmicrosatellite genotypingMLPA 546 individuals Missense 7.7%Nonsense 21.6%Splicing 27.1%Frameshift 30.0%Large del 8.4%Others 5.1% [19]
Japan 86 unrelated individuals NGSDNA sequencingMLPA 67 variants in 80 individuals Missense 16.3%Nonsense 37.5%Splicing 10%Frameshift 23.8%Large del 12.5% [20]
Netherlands 1985 unrelated individuals DNA sequencingSSCPMLPAFISH 1178 individuals Missense 9.8%Nonsense 29.4%Splicing 19.7%Frameshift 31.7%Others 4.1% [21]
China 109 individuals, 100 families DNA sequencingmRNA sequencingMLPA 89 variants in 100 families Missense 13.5%Nonsense 23.6%Splicing 16.9%Frameshift 29.2%Large del 12.4%Others 4.5% [22]
Italy 79 unrelated individuals NGSMLPA 73 variants in 79 individuals Missense 30%Nonsense 34%Splicing 7%Small del 24.7%Insertion 1.4%Large del 2.7% [23]

Abbreviations: MLPA, multiplex ligation-dependent probe amplification; FISH, Fluorescence in situ hybridization; SSCP, single-strand conformation polymorphism; DHPLC, denaturing high performance liquid chromatography; RT-PCR, reverse transcriptase polymerase chain reaction; NGS, next-generation sequencing; Indel, insertion/deletion; del, deletion.

Lab Med Online 2021;11:17~24
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