Novel OPN1LW/OPN1MW deletion mutations in 2 Japanese families with blue cone monochromacy.
Blue cone monochromacy (BCM) is caused by the lack of expression of the normal proteins encoded by the OPN1LW and OPN1MW genes, resulting in the absence of red and green cone sensitivities. We analyzed two cases of BCM in two different families and identified deletion mutations in the locus control region upstream of the two genes. Deletion breakpoints were determined to an accuracy of one base for both cases.
Department of Ophthalmology, Hamamatsu University School of Medicine, Shizuoka, Japan; Preeminent Medical Photonics Education & Research Center, Department of Photomedical Genomics, Institute for Medical Photonics Research, Hamamatsu University School of Medicine, Shizuoka, Japan; Department of Ophthalmology, the 4th affiliated hospital of China Medical University, Shenyang, China.
Chunxia
C
Wang
Department of Ophthalmology, Hamamatsu University School of Medicine, Shizuoka, Japan; Preeminent Medical Photonics Education & Research Center, Department of Photomedical Genomics, Institute for Medical Photonics Research, Hamamatsu University School of Medicine, Shizuoka, Japan.
Katsuhiro
K
Hosono
Department of Ophthalmology, Nagoya University School of Medicine, Nagoya, Japan; Matsuura eye clinic, Sakae, Ichinomiya, Japan.
Shu
S
Kachi
Department of Ophthalmology, Hamamatsu University School of Medicine , Shizuoka, Japan.
Kimiko
K
Suto
Department of Ophthalmology, Nagoya University School of Medicine, Nagoya, Japan; Nakamura eye clinic, Nagoya, Japan.
Makoto
M
Nakamura
Department of Ophthalmology, Nagoya University School of Medicine , Nagoya, Japan.
Hiroko
H
Terasaki
Aichi Medical University , Nagakute, Japan.
Yozo
Y
Miyake
Department of Ophthalmology, Hamamatsu University School of Medicine , Shizuoka, Japan.
Yoshihiro
Y
Hotta
Preeminent Medical Photonics Education & Research Center, Department of Photomedical Genomics, Institute for Medical Photonics Research, Hamamatsu University School of Medicine , Shizuoka, Japan.
Shinsei
S
Minoshima