Scientific correspondence
Rhodopsin mutations in Chinese patients with retinitis pigmentosa
Wai Man Chan, Kwun Yan Yeung, Chi Pui Pang, Larry Baum, Tung Ching Lau, Alvin Kwan Ho Kwok, Dennis Shun Chiu Lam
Department of
Ophthalmology and Visual Sciences, The Chinese University of Hong Kong,
Hong Kong, China
Correspondence to: Dr C P Pang, Hong Kong Eye Hospital 3/F, 147K Argyle Street, Kowloon, Hong Kong cppang{at}cuhk.edu.hk
Accepted for publication 12 March 2001
AIM
To determine the
pattern of rhodopsin mutations in Chinese retinitis pigmentosa (RP) patients.
METHODSThe rhodopsin
gene was examined in 101 RP patients and 190 controls from Hong Kong.
RESULTSThree coding
changes were identified: Pro347Leu, Ala299Ser, and 5211delC. Each
protein sequence alteration was found in one patient. Ala299Ser also
existed in two controls.
CONCLUSIONThe
C-terminal nonsense mutation may cause mis-sorting of rhodopsin
protein. The finding of controls with Ala299Ser suggests this is only
the third missense alteration reported that does not cause RP. The
expected frequency of rhodopsin mutations in RP is <7% (2/101=2.0%,
95% confidence interval: 0.2%-7.0%).
© 2001 by British Journal of Ophthalmology
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