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Table. 4.

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 https://doi.org/10.47429/lmo.2021.11.1.17