Journal of Ophthalmology

Research Article

Genetic Profile and Associated Characteristics of 150 Korean Patients with Retinitis Pigmentosa

Table 2

Descriptions of the four major causative genes and their variants in Korean patients with retinitis pigmentosa.


Subject no.	Causative gene	NM number	Chromosome	HGVSDNA change	HGVS protein change	Zygosity	Inheritance	Mutation type	ACMG criteria

EYS-1	EYS	NM_001142800.1	6	c.4957dup	p.Ser1653fs	Hetero	AR	Nonsense	P	PVS1PM2PP5
EYS-1	EYS	NM_001142800.1	6	c.2528G>A	p.Gly843Glu	Hetero	AR	Missense	LP	PM1PM2PP3PP5
EYS-2	EYS	NM_001142800.1	6	c.4957dup	p.Ser1653fs	Homo	AR	Nonsense	P	PVS1PM2PP5
EYS-3	EYS	NM_001142800.1	6	c.4957dup	p.Ser1653fs	Hetero	AR	Nonsense	P	PVS1PM2PP5
EYS-3	EYS	NM_001142800.1	6	c.7394C>G	p.Thr2465Ser	Hetero	AR	Missense	VUS^b	PM1PM2PP3
EYS-4	EYS	NM_001142800.1	6	c.4957dup	p.Ser1653fs	Hetero	AR	Nonsense	P	PVS1PM2PP5
EYS-4	EYS	NM_001142800.1	6	c.6557G>A	p.Gly2186Glu	Hetero	AR	Missense	LP	PM1PM2PP3PP5
EYS-5	EYS	NM_001142800.1	6	c.8805C>A	p.Tyr2935Ter	Hetero	AR	Nonsense	P	PVS1PM2PM5
EYS-5	EYS	NM_001142800.1	6	c.6557G>A	p.Gly2186Glu	Hetero	AR	Missense	LP	PM1PM2PP3PP5
EYS-6	EYS	NM_001142800.1	6	c.6557G>A	p.Gly2186Glu	Hetero	AR	Missense	LP	PM1PM2PP3PP5
EYS-6	EYS	NM_001142800.1	6	c.525_527del	p.Glu176del	Hetero	AR	In-frame deletion	VUS^b	PM3
EYS-7	EYS	NM_001142800.1	6	c.2641 + 1G>A		Hetero	AR		P^a	PVS1PM2PP3
EYS-7	EYS	NM_001142800.1	6	c.586A>C	p.Lys196Gln	Hetero	AR	Missense	VUS^b	PM1PM2PP5
EYS-8	EYS	NM_001142800.1	6	c.4957dup	p.Ser1653fs	Homo	AR	Nonsense	P	PVS1PM2PP5
EYS-9	EYS	NM_001142800.1	6	c.8805C>A	p.Tyr2935Ter	Hetero	AR	Nonsense	P	PVS1PM2PP5
EYS-9	EYS	NM_001142800.1	6	c.525_527del	p.Glu176del	Hetero	AR	In-frame deletion	VUS^b	PM2PM4
EYS-10	EYS	NM_001142800.1	6	c.8805C>A	p.Tyr2935Ter	Hetero	AR	Nonsense	P	PVS1PM2PP5
EYS-10	EYS	NM_001142800.1	6	c.1963G>T	p.Gly655Ter	Hetero	AR	Nonsense	P^a	PVS1PPMPP3
EYS-11	EYS	NM_001142800.1	6	c.4957dup	p.Ser1653fs	Hetero	AR	Nonsense	P	PVS1PM2PP5
EYS-11	EYS	NM_001142800.1	6	c.8805C>A	p.Tyr2935Ter	Hetero	AR	Nonsense	P	PVS1PM2PP5
EYS-12	EYS	NM_001142800.1	6	c.1963G>T	p.Gly655Ter	Hetero	AR	Nonsense	P	PVS1PM2PP3
EYS-12	EYS	NM_001142800.1	6	c.9368delA	p.Asn3123fs	Hetero	AR	Nonsense	LP	PVS1PM2
EYS-13	EYS	NM_001142800.1	6	c.2528G>A	p.Gly843Glu	Hetero	AR	Missense	LP	PM1PM2PP3PP5
EYS-13	EYS	NM_001142800.1	6	c.6571 + 6T>A		Hetero	AR	Missense	VUS^a,b	PM2PP3
EYS-14	EYS	NM_001142800.1	6	c.2528G>A	p.Gly843Glu	Hetero	AR	Missense	LP	PM1PM2PP3PP5
EYS-14	EYS	NM_001142800.1	6	c.7492G>C	p.Ala2498Pro	Hetero	AR	Missense	VUS^a,b	PM1PM2PP3
EYS-14	EYS	NM_001142800.1	6	c.1382G>A	p.Cys461Tyr	Hetero	AR	Missense	VUS^b	PM2
EYS-15	EYS	NM_001142800.1	6	c.4957dup	p.Ser1653fs	Hetero	AR	Nonsense	P	PVS1PM2PP5
EYS-15	EYS	NM_001142800.1	6	c.525_527del	p.Glu176del	Hetero	AR	In-frame deletion	VUS(LP)	PM2PM4PM3

PDE6B-1	PDE6B	NM_000283.3	6	c.1669C>T	p.His557Tyr	Homo	AR	Missense	LP	PM1PM2PP3PP5
PDE6B-2	PDE6B	NM_000283.3	6	c.1488del	p.Thr497fs	Hetero	AR	Nonsense	P	PVS1PM2PP5
PDE6B-2	PDE6B	NM_000283.3	6	c.1669C>T	p.His557Tyr	Hetero	AR	Missense	LP	PM1PM2PP3PP5
PDE6B−3^∗	PDE6B	NM_000283.3	6	c.2395C>T	p.Arg799Ter	Hetero	AR	Nonsense	P	PVS1PM2PP3PP5
PDE6B−3	PDE6B	NM_000283.3	6	c.1712C>T	p.Thr571Met	Hetero	AR	Missense	VUS	PM1PM2PP5
PDE6B-4^∗	PDE6B	NM_000283.3	6	c.2395C>T	p.Arg799Ter	Hetero	AR	Nonsense	P	PVS1PM2PP3PP5
PDE6B-4	PDE6B	NM_000283.3	6	c.1712C>T	p.Thr571Met	Hetero	AR	Missense	VUS	PM1PM2PP5
PDE6B-5	PDE6B	NM_000283.3	6	c.1547T>C	p.Leu516Pro	Hetero	AR	Missense	LP	PM1PM2PP3PP5
PDE6B-5	PDE6B	NM_000283.3	6	c.1669C>T	p.His557Tyr	Hetero	AR	Missense	LP	PM1PM2PP3PP5
PDE6B-6	PDE6B	NM_000283.3	6	c.1669C>T	p.His557Tyr	Homo	AR	Missense	LP	PM1PM2PP3PP5
PDE6B-7	PDE6B	NM_000283.3	6	c.712del	p.Val238fs	Hetero	AR	Frameshift	LP^a	PVS1PM2
PDE6B-7	PDE6B	NM_000283.3	6	c.2492C>T	p.Ala831Val	Hetero	AR	Missense	VUS^,b	PM1PM2BP4
PDE6B-8	PDE6B	NM_000283.3	6	c.1669C>T	p.His557Tyr	Homo	AR	Missense	LP	PM1PM2PP3PP5
PDE6B-9	PDE6B	NM_000283.3	6	c.1604T>A	p.Ile535Asn	Homo	AR	Missense	LP	PM1PM2PP3PP5
PDE6B-10	PDE6B	NM_000283.3	6	c.1669C>T	p.His557Tyr	Homo	AR	Missense	LP	PM1PM2PP3PP5

RP1-1	RP1	NM_006269.1	8	c.256C>A	p.Pro86Thr	Hetero	AD/AR	Missense	VUS^b	PM1PM2PP3
RP1-2	RP1	NM_006269.1	8	c.5797C>T	p.Arg1933Ter	Homo	AD/AR	Nonsense	P	PVS1PM2PP3PP5
RP1-3^∗	RP1	NM_006269.1	8	c.6181del	p.Ile2061fs	Hetero	AD/AR	Coding sequence variant	VUS	PM2PP5
RP1-4^∗	RP1	NM_006269.1	8	c.6181del	p.Ile2061fs	Hetero	AD/AR	Coding sequence variant	VUS	PM2PP5
RP1-5	RP1	NM_006269.1	8	c.4196del	p.Cys1399fs	Hetero	AD/AR	Frameshift	P	PVS1PM2PP5
RP1-5	RP1	NM_006269.1	8	c.6353G>A	p.Ser2118Asn	Hetero		Missense	VUS^b	PM2PP5
RP1-6	RP1	NM_006269.1	8	c.5797C>T	p.Arg1933Ter	Hetero	AD/AR	Nonsense	P	PVS1PM2PP3PP5
RP1-7^∗	RP1	NM_006269.1	8	c.2296C>T	p.Gln766Ter	Hetero	AD/AR	Nonsense	P	PVS1PM2PP3
RP1-7	RP1	NM_006269.1	8	c.5913C>A	p.Asn1971Lys	Hetero		Missense	VUS	PM2BP1
RP1-8	RP1	NM_006269.1	8	c.2238_2239del	p.Ser747Ter	Hetero	AD/AR	Nonsense	LP	PVS1PM2
RP1-9	RP1	NM_006269.1	8	c.4196del	p.Cys1399fs	Hetero	AD/AR	Frameshift	P	PVS1PM2PP5
RP1-9	RP1	NM_006269.1	8	c.5797C>T	p.Arg1933Ter	Hetero		Nonsense	P	PVS1PM2PP3PP5
RP1-9	RP1	NM_006269.1	8	c.6353G>A	p.Ser2118Asn	Hetero		Missense	VUS^b	PM2PP5

USHA2A-1	USH2A	NM_001142800.1	1	c.8254G>A	p.Gly2752Arg	Hetero	AR	Missense	LP	PM1PM2PP3
USHA2A-1	USH2A	NM_001142800.1	1	c.451G>C	p.Ala151Pro	Hetero	AR	Missense	VUS^a,b	PM1PM2BP4
USHA2A-2	USH2A	NM_001142800.1	1	c.6326-1G>T		Hetero	AR		P^a	PVS1PM2PP3
USHA2A-2	USH2A	NM_001142800.1	1	c.11156G>A	p.Arg3719His	Hetero	AR	Missense	VUS^b	PM1PM2PP5
USHA2A-3	USH2A	NM_001142800.1	1	c.2802T>G	p.Cys934Trp	Hetero	AR	Missense	LP	PM1PM2PP3PP5
USHA2A-3	USH2A	NM_001142800.1	1	c.11136_11137del	p.Gln3714fs	Hetero	AR	Frameshift	LP^a	PVS1PM2
USHA2A-3	USH2A	NM_001142800.1	1	c.15518T>C	p.Leu5173Pro	Hetero	AR	Missense	VUS^a,b	PM2PP3
USHA2A-4	USH2A	NM_001142800.1	1	c.8559-2A>G		Hetero	AR	Splice acceptor	P	PVS1PM2PP3PP5
USHA2A-4	USH2A	NM_001142800.1	1	c.2802T>G	p.Cys934Trp	Hetero	AR	Missense	LP	PM1PM2PP3PP5
USHA2A-5^∗	USH2A	NM_001142800.1	1	c.2802T>G	p.Cys934Trp	Hetero	AR	Missense	LP	PM1PM2PP3PP5
USHA2A-5	USH2A	NM_001142800.1	1	c.13339A>G	p.Met4447Val	Hetero	AR	Missense	VUS^b	PM1PM2
USHA2A-6	USH2A	NM_001142800.1	1	c.14287G>A	p.Gly4763Arg	Hetero	AR	Missense	LP	PM1PM2PP3PP5
USHA2A-6	USH2A	NM_001142800.1	1	c.1190T>A	p.Ile397Lys	Hetero	AR	Missense	VUS^a,b	PM1PM2PP3
USHA2A-7	USH2A	NM_001142800.1	1	c.7046G>A	p.Trp2349Ter	Hetero	AR	Nonsense	P^a	PVS1PM2PP3
USHA2A-7	USH2A	NM_001142800.1	1	c.2802T>G	p.Cys934Trp	Hetero	AR	Missense	LP	PM1PM2PP3PP5
USHA2A-8	USH2A	NM_001142800.1	1	c.2802T>G	p.Cys934Trp	Hetero	AR	Missense	LP	PM1PM2PP3PP5
USHA2A-8	USH2A	NM_001142800.1	1	c.8254G>A	p.Gly2752Arg	Hetero	AR	Missense	LP	PM1PM2PP3PP5
USHA2A-9	USH2A	NM_001142800.1	1	c.2802T>G	p.Cys934Trp	Homo	AR	Missense	LP	PM1PM2PP3PP5
USHA2A-10	USH2A	NM_001142800.1	1	c.1450C>T	p.Gln484Ter	Hetero	AR	Nonsense	P	PVS1PM2PP3
USHA2A-10	USH2A	NM_001142800.1	1	c.2802T>G	p.Cys934Trp	Hetero	AR	Missense	LP	PM1PM2PP3PP5
USHA2A-11	USH2A	NM_001142800.1	1	c.9258 + 1G>T		Hetero	AR	Splice donor	P	PVS1PM2PP3PP5
USHA2A-11	USH2A	NM_001142800.1	1	c.2802T>G	p.Cys934Trp	Hetero	AR	Missense	LP	PM1PM2PP3PP5
USHA2A-11	USH2A	NM_001142800.1	1	c.14557A>G	p.Met4853Val	Hetero	AR	Missense	VUS^b	PM1PM2BP4
USHA2A-12	USH2A	NM_001142800.1	1	c.8559-2A>G		Hetero	AR	Splice acceptor	P	PVS1PM2PP3PP5
USHA2A-12	USH2A	NM_001142800.1	1	c.2802T>G	p.Cys934Trp	Hetero	AR	Missense	LP	PM1PM2PP3PP5
USHA2A-12	USH2A	NM_001142800.1	1	c.15178T>C	p.Ser5060Pro	Hetero	AR	Missense	VUS^b	PM2

ACMG, American College of Medical Genetics and Genomics; HGVS, Human Genome Variation Society; P, pathogenic variant; LP, likely pathogenic variant; VUS, variant of unknown significance; AR, autosomal recessive; AD, autosomal dominant; XL, X-linked; hetero, heterozygote; homo, homozygote. ^∗Patients who underwent segregation testing; ^anovel variants; ^bVUS confirmed by definitive retinitis pigmentosa phenotype.