Table 1

OTOF mutations including mutations from genetic screening of 65 NSRAN and NSRHL families (in bold)

Exon or IVS	Mutation	Codon	Controls, no. of chromosomes	Family	Diagnosis	Origin	Reference
IVS, intervening sequences or intron.
8	709C→T	R237X	0/36		NSRHL	UAE	¹⁹
8 IVS	IVS8−2A→G		0/218		NSRHL	India	²³
15	1469C→A	P490Q	0/220		NSRHL	Turkey	²¹
15	1544T→C	I515T	0/178, 0/220	3467	TS-NSRAN, NSRHL	USA, Turkey	²¹
16	1651delG		0/188		NSRAN	USA	²
17	1886_1887insA	K629fs	0/188	3466	NSRAN	USA
18 IVS	IVS18 +1G→T		0/188	3539	NSRAN	USA
19	2122C→T	R708X	0/100		NSRHL	Spain	³
21	2348delG	G783fs	0/184	3466	NSRAN	USA
21	2381G→A	R794H	0/160	53510	NSRHL	USA
22	2485C→T	Q829X	0/172, 0/400	3456, 3540	NSRAN, NSRHL	UK, USA, Spain, Cuba	^3, ²⁰
24 IVS	IVS24 +1G→A		0/240		NSRHL	Druze/Israel	¹⁸
26	3032T→C	L1011P	0/100		NSRAN	Turkey	⁴
28 IVS	IVS28 −2A→C		0/184	3456	NSRAN	UK
36	4275G→A	W1425X	0/100		NSRAN	Spain	³
36 IVS	IVS36 +2T→G		0/100		NSRAN	Spain	³
37	4491T→A	Y1497X	0/212		NSRHL	Lebanon	²²
39 IVS	IVS39 +1G→C		0/188		NSRAN	USA	²
44	5473C→G	P1825A	0/200		NSRHL	Spain	²⁰
48	5860_5862delATC	I1954del	0/100		NSRAN	Spain	³
48	6014G→A	R1939Q	0/188		NSRAN	USA	²
48	6158C→G	P1987R	0/188		NSRAN	USA	²