Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients

Jiang, Lichun; Liang, Xiaofang; Li, Yumei; Wang, Jing; Zaneveld, Jacques Eric; Wang, Hui; Xu, Shan; Wang, Keqing; Wang, Binbin; Chen, Rui; Sui, Ruifang

doi:10.1186/s13023-015-0329-3

Table 2 Biallelic mutations in USH genes in USH II patients^a

From: Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients

Patient	Gene	Type	NMID	Exon	cDNA	Amino acid	Genotype	Patient origin	Reference
USHsrf1	USH2A	Splicing	NM_206933	44	c.8559-2A > G	c.8559-2A > G	Heterozygous	Japanese	[31]
USHsrf1	USH2A	nonsynonymous	NM_206933	5	c.G802A^d	p.G268R	Heterozygous	uk	[39]
USHsrf2	USH2A	stopgain	NM_206933	49	c.C9723A	p.Y3241X	Homozygous	Chinese	Novel
USHsrf7	USH2A	stopgain	NM_206933	54	c.C10612T	p.R3538X	Heterozygous	Chinese	Novel
USHsrf7	USH2A	stopgain	NM_206933	68	c.C14911T	p.R4971X	Heterozygous	UK	[30]
USHsrf9	USH2A	Splicing	NM_206933	44	c.8559-2A > G	c.8559-2A > G	Heterozygous	Japanese	[31]
USHsrf9	USH2A	nonsynonymous	NM_206933	28	c.G5581A^c	p.G1861S	Heterozygous	Chinese	Novel
USHsrf10	USH2A	frameshift	NM_206933	9	c.1589_1590insG	p.T530fs	Heterozygous	Chinese	Novel
USHsrf10	USH2A	frameshift	NM_206933	28	c.5735_5736del	p.1912_1912del	Heterozygous	Chinese	Novel
USHsrf11	USH2A	frameshift	NM_206933	2	c.100_101insT^e	p.R34fs	Heterozygous	Denmark and Norway?	[40]
USHsrf11	USH2A	Splicing	NM_206933	44	c.8559-2A > G	c.8559-2A > G	Heterozygous	Japanese	[31]
USHsrf18	USH2A	frameshift	NM_206933	2	c.100_101insT^e	p.R34fs	Heterozygous	Denmark and Norway?	[40]
USHsrf18	USH2A	nonsynonymous	NM_206933	42	c.G8232C	p.W2744C	Heterozygous	Chinese	[15]
USHsrf20	USH2A	Splicing	NM_206933	44	c.8559-2A > G	c.8559-2A > G	Heterozygous	Japanese	[31]
USHsrf20	USH2A	nonsynonymous	NM_206933	5	c.G802A^d	p.G268R	Heterozygous	UK	[39]
USHsrf21	USH2A	frameshift	NM_206933	17	c.3420_3423del	p.1140_1141del	Heterozygous	Chinese	Novel
USHsrf21	USH2A	stopgain	NM_206933	47	c.G9319T	p.E3107X	Heterozygous	Chinese	Novel
USHsrf23	USH2A	frameshift	NM_206933	63	c.13060_13063del	p.4354_4355fsdel	Heterozygous	Chinese	Novel
USHsrf23	USH2A	frameshift	NM_206933	67	c.14667delG	p.G4889fs	Heterozygous	Chinese	Novel
USHsrf24	USH2A	Splicing	NM_206933	8	c.1144-2A > C	c.1144-2A > C	Heterozygous	Chinese	Novel
USHsrf24	USH2A	stopgain	NM_206933	35	c.C6752A	p.S2251X	Heterozygous	Chinese	Novel
USHsrf25	USH2A	stopgain	NM_206933	35	c.C6752A	p.S2251X	Heterozygous	Chinese	Novel
USHsrf25	USH2A	nonsynonymous	NM_206933	50	c.C9815T	p.P3272L	Heterozygous	Dutch	[41]
USHsrf30	USH2A	frameshift	NM_206933	63	c.12409delA	p.R4137fs	Heterozygous	Chinese	Novel
USHsrf30	USH2A	nonsynonymous	NM_206933	13	c.T2802G^b	p.C934W	Heterozygous	Chinese	[15]
USHsrf31	USH2A	nonsynonymous	NM_206933	13	c.T2802G^b	p.C934W	Homozygous	Chinese	[15]
USHsrf32	USH2A	stopgain	NM_206933	48	c.C9469T	p.Q3157X	Heterozygous	Japanese	[18]
USHsrf32	USH2A	nonsynonymous	NM_206933	14	c.T2914G	p.C972G	Heterozygous	Chinese	Novel
USHsrf33	USH2A	Splicing	NM_206933	10	c.1644 + 1G > A	c.1644 + 1G > A	Heterozygous	Chinese	Novel
USHsrf33	USH2A	stopgain	NM_206933	12	c.1993_1994insT	p.K665_R666delinsX	Heterozygous	Chinese	Novel
USHsrf35	USH2A	stopgain	NM_206933	34	c.G6488A	p.W2163X	Heterozygous	Chinese	Novel
USHsrf35	USH2A	nonsynonymous	NM_206933	50	c.G9958T	p.G3320C	Heterozygous	Chinese	Novel
USHsrf36	USH2A	nonsynonymous	NM_206933	6	c.C1000T	p.R334W	Homozygous	all types	[40]
USHsrf37	USH2A	nonsynonymous	NM_206933	40	c.A7492T	p.S2498C	Heterozygous	Chinese	Novel
USHsrf37	USH2A	nonsynonymous	NM_206933	6	c.G1048A^f	p.V350I	Heterozygous	Chinese	Novel
USHsrf45	USH2A	Splicing	NM_206933	44	c.8559-2A > G	c.8559-2A > G	Heterozygous	Japanese	[31]
USHsrf45	USH2A	stopgain	NM_206933	11	c.C1876T	p.R626X	Heterozygous	French Canadian?	[42]
USHsrf46	USH2A	frameshift	NM_206933	2	c.100_101insT^e	p.R34fs	Homozygous	Denmark and Norway?	[40]
USHsrf48	USH2A	Splicing	NM_206933	44	c.8559-2A > G	NA	Heterozygous	Japanese	[40]
USHsrf48	USH2A	nonsynonymous	NM_206933	26	c.G5200C	p.G1734R	Heterozygous	Chinese	[43]
USHsrf50	USH2A	Splicing	NM_206933	44	c.8559-2A > G	NA	Heterozygous	Japanese	[16]
USHsrf50	USH2A	stopgain	NM_206933	6	c.T1140A	p.Y380X	Heterozygous	Chinese	Novel
USHsrf52	USH2A	Splicing	NM_206933	44	c.8559-2A > G	NA	Homozygous	Japanese	[31]
USHsrf52	USH2A	nonsynonymous	NM_206933	2	c.G206T	p.S69I	Heterozygous	Chinese	Novel
USHsrf54	USH2A	frameshift	NM_206933	4	c.710delT	p.F237fs	Heterozygous	Chinese	Novel
USHsrf54	USH2A	nonsynonymous	NM_206933	13	c.T2802G	p.C934W	Heterozygous	Chinese	[15]
USHsrf55	USH2A	frameshift	NM_206933	28	c.5735_5736del	p.1912_1912del	Heterozygous	Chinese	Novel
USHsrf55	USH2A	nonsynonymous	NM_206933	42	c.G8232C	p.W2744C	Heterozygous	Chinese	[15]
USHsrf59	USH2A	frameshift	NM_206933	2	c.C100T	p.R34X	Heterozygous	Denmark and Norway?	[40]
USHsrf59	USH2A	Splicing	NM_206933	44	c.8559-2A > G	c.8559-2A > G	Heterozygous	Japanese	[31]
USHsrf60	USH2A	frameshift	NM_206933	2	c.100_101insT^e	p.R34fs	Heterozygous	Denmark and Norway?	[40]
USHsrf60	USH2A	Splicing	NM_206933	44	c.8559-2A > G	c.8559-2A > G	Heterozygous	Japanese	[31]
USHsrf63	USH2A	frameshift	NM_206933	38	c.7184_7194del	p.2395_2398del	Heterozygous	Chinese	Novel
USHsrf63	USH2A	stopgain	NM_206933	48	c.T9453A	p.Y3151X	Heterozygous	Chinese	Novel
USHsrf66	USH2A	Splicing	NM_206933	44	c.8559-2A > G	c.8559-2A > G	Heterozygous	Japanese	[31]
USHsrf66	USH2A	stopgain	NM_206933	2	c.C100T	p.R34X	Heterozygous	Denmark and Norway?	[40]
USHsrf69	USH2A	stopgain	NM_206933	64	c.C13822T	p.R4608X	Heterozygous	Norway?	[39]
USHsrf69	USH2A	stopgain	NM_206933	15	c.G3034T	p.E1012X	Heterozygous	Chinese	Novel
USHsrf70	USH2A	frameshift	NM_206933	33	c.6347_6348insC	p.H2116fs	Heterozygous	Chinese	Novel
USHsrf70	USH2A	stopgain	NM_206933	41	c.A7984T	p.R2662X	Heterozygous	Chinese	Novel
USHsrf42	GPR98	frameshift	NM_032119	55	c.11547delA	p.I3849fs	Heterozygous	Chinese	Novel
USHsrf42	GPR98	nonsynonymous	NM_032119	32	c.G7130A	p.R2377Q	Heterozygous	Chinese	Novel
USHsrf49	GPR98	nonsynonymous	NM_032119	64	c.T13048C	p.S4350P	Heterozygous	Chinese	Novel
USHsrf49	GPR98	nonsynonymous	NM_032119	7	c.G929A	p.G310E	Heterozygous	Chinese	Novel
USHsrf43	GPR98	stopgain	NM_032119	32	c.C7006T	p.R2336X	Heterozygous	Chinese	Novel
USHsrf43	GPR98	frameshift	NM_032119	70	c.14451_14452del	p.4817_4818del	Heterozygous	Chinese	Novel
USHsrf38	DFNB31	Splicing	NM_001173425	4	c.963 + 1G > A	c.963 + 1G > A	Homozygous	Chinese	Novel
USHsrf64	CLRN1	nonsynonymous	NM_001195794	1	c.G191C	p.G64A	Homozygous	Chinese	Novel
USHsrf67	CLRN1	nonsynonymous	NM_052995	1	c.C19A	p.Q7K	Homozygous	Chinese	Novel
USHsrf40	MYO7A	nonsynonymous	NM_001127180	37	c.G4951A	p.D1651N	Heterozygous	Chinese	Novel
USHsrf40	MYO7A	nonsynonymous	NM_001127180	33	c.G4360A	p.V1454I	Heterozygous	Chinese	Novel

^aUnless stated otherwise, alleles are not found in any of the database we used for control common variants
^b1/2184 in 1000 genome
^c0.000227 in ESP6500
^drs111033280;CLN;PM;LSD
^e1/2184 in 1000 genome
^f1/2184 in 1000 genome

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