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

Orphanet Journal of Rare Diseases

Table 1 Biallelic mutations in USH genes in USH I 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
USHsrf17	MYO7A	Splicing	NM_001127180	19	c2187 + 1G > A^b	c2187 + 1G > A	Heterozygous	Chinese	Novel
USHsrf17	MYO7A	frameshift	NM_001127180	5	c.390_391insC^c	p.M130fs	Heterozygous	Chinese	Novel
USHsrf22	MYO7A	nonsynonymous	NM_001127180	17	c.C1969T	p.R657W	Heterozygous	UK	[37]
USHsrf22	MYO7A	nonsynonymous	NM_001127180	7	c.C721T	p.R241C	Heterozygous	England, Scoland	[38]
USHsrf41	MYO7A	frameshift	NM_001127180	29	c.3695_3705del	p.1232_1235del	Heterozygous	Chinese	Novel
USHsrf41	MYO7A	stopgain	NM_001127180	33	c.G4398A	p.W1466X	Heterozygous	Chinese	Novel
USHsrf44	MYO7A	nonframeshift	NM_001127180	43	c.5766_5768del	p.1922_1923del	Heterozygous	ALL types	pathogenic in dbSNP
USHsrf44	MYO7A	stopgain	NM_001127180	40	c.C5467T	p.R1823X	Heterozygous	Chinese	Novel
USHsrf53	MYO7A	stopgain	NM_001127180	33	c.C4354T	p.Q1452X	Heterozygous	Chinese	Novel
USHsrf53	MYO7A	nonsynonymous	NM_001127180	23	c.T2837G	p.M946R	Heterozygous	Chinese	Novel
USHsrf56	MYO7A	nonframeshift	NM_001127180	43	c.5766_5768del^d	p.1922_1923del	Homozygous	ALL types	pathogenic in dbSNP
USHsrf61	MYO7A	frameshift	NM_001127180	29	c.3695_3705del	p.1232_1235del	Heterozygous	Chinese	Novel
USHsrf61	MYO7A	frameshift	NM_001127180	32	c.4251delC	p.I1417fs	Heterozygous	Chinese	Novel
USHsrf39	MYO7A	Splicing	NM_001127180	32	c.4323 + 2 T > C	c.4323 + 2 T > C	Heterozygous	Chinese	Novel
USHsrf39	MYO7A	nonsynonymous	NM_001127180	40	c.T5396C	p.L1799P	Heterozygous	Chinese	Novel
USHsrf8	PCDH15	frameshift	NM_001142773	14	c.1799_1800insTA	p.S600fs	Heterozygous	Chinese	Novel
USHsrf8	PCDH15	stopgain	NM_001142773	21	c.A2893T	p.R965X	Heterozygous	Chinese	Novel
USHsrf14	CLRN1	stopgain	NM_001195794	4	c.C658T	p.R220X	Heterozygous	Chinese	Novel
USHsrf14	CLRN1	nonsynonymous	NM_001195794	1	c.G190A	p.G64R	Heterozygous	Chinese	Novel

^aUnless stated otherwise, alleles are not found in any of the database we used for control common variants
^brs111033280;CLN;PM;LSD
^c0.000227 in ESP6500
^d1/2184 in 1000 genome

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ISSN: 1750-1172

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