Molecular Vision: Sodi, Mol Vis 2014; 20:1717-1731. Table 1

Table 1. The MYO7A and USH2A sequence variants detected in our series.

Patient	USH phenotype	Gene	Allele 1	Allele 2	Allele 1 reference	Allele 2 reference
LA	USH1	MYO7A	c.721C>G (p.Arg241Gly)	c.721C>G (p.Arg241Gly)	[15]	[15]
ZE	USH1	MYO7A	c.4798G>C (p.Gly1600Arg)	c.5810T>C (p.Leu1937Pro)	*	*
TG	USH1	MYO7A	c.977T>C (p.Leu326Pro)	c.5617C>T (p.Arg1873Trp)	*	[43]
LMa	USH2	MYO7A	c.4411T>C (p.Ser1471Pro)	c.4411T>C (p.Ser1471Pro)	[22]	[22]
BN	USH2	MYO7A	c.395C>T (p.Pro132Leu)	c.4039C>A (p.Arg1347Ser)	[15]	*
IP	USH2	USH2A	c.2052A>G (p.=)	Not found	[44]
IP	USH2	MYO7A	Not found	Not found
BPi	USH2	USH2A	c.2276G>T (p.Cys759Phe)	Not found	[45]
BPi	USH2	MYO7A	Not found	Not found
NLu	USH2	MYO7A	c.5866G>A (p.Val1956Ile)	Not found	[16]
NLu	USH2	USH2A	Not found	Not found
EM	USH2	USH2A	c.7246A>G (p.Asn2416Asp)	Not found	*
EM	USH2	MYO7A	Not found	c.3979G>A (p.Glu1327Lys)		[46]
BG	USH2	USH2A	c.8906C>G *(p.Ser2969)**	c.8906C>G *(p.Ser2969)**	*	*
PiF	USH2	USH2A	c.2610C>A (p.Cys870*)	c.1729T>C (p.Cys577Arg)	[16]	*
ZK	USH2	USH2A	c.1663C>G p.Leu555Val, c.1841–2A>G (p.?)	c.11750_11753del *(p.Val3917Glyfs15)**		*
AF	USH2	USH2A	c.439_445del *(p.Ser147Profs2)**	c.7595–2144A>G (p.Lys2532Thrfs*56)	*	[26]
GF	USH2	USH2A	c.2299del (p.Glu767Serfs*21)	c.13130C>A (p.Ser4377*)	[25]	[16]
SF	USH2	USH2A	c.9811del *(p.Met3271Cysfs30)**	c.9959–1G>C (p.?)	*	*
RA	USH2	USH2A	c.1663C>G (p.Leu555Val), c.1841–2A>G (p.?)	c.8628G>A *(p.Trp2876)**	[33]	*
JP	USH2	USH2A	c.8232G>A (p.Trp2744*)	c.10450C>T (p.Arg3484*)	[16]	[27]
PB	USH2	USH2A	c.11864G>A (p.Trp3955*)	c.12067–2A>G (p.?)	[21]	[28]
BV	USH2	USH2A	c.4144T>C (p.Trp1382Arg)	c.3317-?_4251+?	*	*
BM	USH2	USH2A	c.4144T>C (p.Trp1382Arg)	c.3317-?_4251+?	*	*
CP	USH2	USH2A	c.1841–2A>G (p.?)	c.1841–2A>G (p.?)	[33]	[33]
BL	USH2	USH2A	c.1434G>C (p.Glu478Asp), c.7595–2144A>G (p.Lys2532Thrfs*56)	c.4628-?_4758+?	[26,29]	*
FT	USH2	USH2A	c.12859_12863del *(p.Pro4287Argfs4)**	c.13130C>A (p.Ser4377X)	*	[16]
SC	USH2	USH2A	c.9811del *(p.Met3271Cysfs30)**	c.9959–1G>C (p.?)	*	*
CF	USH2	USH2A	c.11831C>A p.Ala3944Asp	c.4759-?_6325+?	*	*
FS	USH2	USH2A	c.4046del *(p.Ser1349Phefs17)**	c.5776+1G>A (p.?)	*	[33]
ML	USH2	USH2A	c.1040A>G (p.Asp347Gly)	c.9811del *(p.Met3271Cysfs30)**	*	*
LMo	USH2	USH2A	c.5776+1G>A (p.?)	c.14977_14978del *(p.Phe4993Profs7)**	[33]	*
MG	USH2	USH2A	c.1663C>G (p.Leu555Val), c.187C>T (p.Arg63*)	c.11918del *(p.Ala3973Valfs11)**	[33,47]	*
GS	USH2	USH2A	c.2299del (p.Glu767Serfs*21)	c.13130C>A (p.Ser4377*)	[25]	[16]
VE	USH2	USH2A	c.11194C>T *(p.Gln3732)**	c.11194C>T *(p.Gln3732)**	*	*

The sequence variants-identified for the first time in this study are marked in bold on Allele 1 and/or Allele 2 columns and with an asterisk on Allele 1 reference and/or Allele 2 reference columns. Three patients were clinically classified as USH1. Thirty-three patients were classified as USH2. All the 3 USH1 patients carried 2 MY07A sequence variants. Among the 33 patients clinically classified as USH2, 22 carried 2 USH2A variants, 2 carried 2 MYO7A variants, 1 carried a single MYO7A variant, 2 carried a single USH2A variant, 1 carried a MYO7A variant on one allele and an USH2A variant on the other allele. In the remaining 5 patients no MYO7A or USH2A variants could be detected and they were not included in this table.