Table 2.

Mutations of the MATP Gene in 18 Japanese Patients with OCA4^[Note]

			Mutation		Clinical Phenotype			Parents
Patient	Age	Sex	1st	2nd	Hair Color	Iris Color	Nystagmus	Mother	Father
3	23 years	F	D157N	G188V	Light yellow	Blue	Positive	G188V	D157N
4	1 year	M	G188V	NI	Brown	Red-brown	Negative	NM	G188V
6	13 years	F	D157N	V469delG	Light yellow	Blue	Positive	V469delG	D157N
8	71 years	F	D157N	D157N	White	Blue	Positive	ND	ND
9	25 years	F	S90CGGCCA→GC	V144insAAGT	White	Blue	Positive	ND	ND
10	1 year	F	G188V	S90CGGCCA→GC	Blond	Gray-blue	Negative	G188V	S90CGGCCA→GC
11	25 years	F	D157N	NI	Blond	Brown	Negative	ND	NM
12	5 years	M	G188V	G188V	Pale blond	Red-brown	Negative	G188V	G188V
15	11 mo	F	G188V	NI	Light yellow	Brown	Negative	G188V	NM
17	1 year	F	D157N	G188V	Yellow	Blue	Positive	G188V	D157N
19	10 years	F	D157N	NI	Brown-black	Brown	Negative	ND	ND
20	2 mo	F	D157N	NI	Light yellow	Gray-blue	Negative	D157N	NM
25	6 years	F	D157N	NI	Blond	Gray	Positive	D157N	NM
36	1 year	F	D157N	V507L	Blond	Gray-blue	Negative	V507L	D157N
38	1 mo	M	D157N	V144insAAGT	Light yellow	Gray	Positive	D157N	V144insAAGT
42	6 mo	F	P58S	S90CGGCCA→GC	Light yellow	Blue	Negative	P58S	S90CGGCCA→GC
50	24 years	F	D157N	D157N	Light yellow	Blue	Positive	D157N	ND
51	1 year	F	D157N	S90CGGCCA→GC	Light yellow	Blue	Positive	D157N	S90CGGCCA→GC

Note.— ND = an examination was not done; NM = no mutation was found in our examination; NI = mutation not identified.