Identification of a VHL gene mutation in atypical Von Hippel-Lindau syndrome: genotype–phenotype correlation and gene therapy perspective

Table 2 Genetic surveillance assays were performed based on tissue sample

Gene	Mutation type	Nucleotide change	Amino acid change	Amino acid change	Rate(%)	Chr	Exon	Initial position	Terminal position	Transcript number
COL4A6	Missense	c.128C > T	p.Pro43Leu	p.P43L	10.5	X	3\|45	107,553,994	107,553,994	NM_033641.2
HMGCL	Missense	c.647A > G	p.Asp216Gly	p.D216G	29.6	1	7\|9	24,134,728	24,134,728	NM_000191.2
KIFC1	Missense	c.935G > A	p.Arg312His	p.R312H	24.6	6	7\|11	33,372,807	33,372,807	NM_002263.3
KPNA7	Missense	c.659C > T	p.Thr220Met	p.T220M	5.2	7	6\|10	98,786,164	98,786,164	NM_001145715.2
KSR2	Missense	c.2720G > A	p.Arg907His	p.R907H	8.6	12	19\|20	117,907,506	117,907,506	NM_173598.4
MSX2	Missense	c.387G > T	p.Met129Ile	p.M129I	9.9	5	2\|2	174,156,169	174,156,169	NM_002449.4
PARP4	Missense	c.3509C > T	p.Thr1170Ile	p.T1170I	10.4	13	29\|34	25,016,762	25,016,762	NM_006437.3
RER1	Missense	c.209C > T	p.Ala70Val	p.A70V	5.0	1	4\|7	2,330,876	2,330,876	NM_007033.4
SCN10A	Missense	c.5454G > C	p.Leu1818Phe	p.L1818F	6.8	3	27\|27	38,739,257	38,739,257	NM_006514.3
VHL	Missense	c.500G > A	p.Arg167Gln	p.R167Q	48.0	3	3\|3	10,191,507	10,191,507	NM_000551.3

Gene mutation and tumor mutation burden analysis indicated somatic pathogenic mutation of VHL gene (c.500G > A, p.Arg167Gln). Tumor mutation burden was 0.18/Mb. There is no other mutations in the VHL gene except p.Arg167Gln in the case. The other major gene mutations included COL4A6 (c.128C > T, p.Pro43Leu), HMGCL (c.647A > G, p.Asp216Gly), KIFC1 (c.935G > A, p.Arg312His), KPNA7(c.659C > T, p.Thr220Met), KSR2(c.2720G > A, p.Arg907His), MSX2(c.387G > T, p.Met129Ile), PARP4(c.3509C > T, p.Thr1170Ile), RER1(c.209C > T, p.Ala70Val), SCN10A(c.5454G > C, p.Leu1818Phe)

ISSN: 1475-2867