A novel mutation in C5L2 gene was associated with hyperlipidemia and retinitis pigmentosa in a Chinese family
1 Southwest Eye Hospital, Southwest Hospital, Third Military Medical University, 30 Gaotanyan Road, Chongqing 400038, China
2 Department of Ophthalmology, Chinese PLA General Hospital, Beijing 100853, China
3 Department of Ophthalmology, No. 181 Hospital of Guilin, Guilin 541002, China
Lipids in Health and Disease 2014, 13:75 doi:10.1186/1476-511X-13-75Published: 6 May 2014
Previous studies indicated that hyperlipidemia was associated with retinitis pigmentosa (RP). We aimed to identify the mutations in the C5L2 gene which was reported to be associated with hyperlipidemia in a Chinese family with (RP).
The Proband from the family was screened for mutations in the C5L2 gene that was known to cause hyperlipidemia. Cosegregation analysis was performed in the available family members. Linkage analysis was performed for one missense mutation to calculate the likelihood of its pathogenicity. One hundred and fifty unrelated, healthy Chinese subjects were screened to exclude nonpathogenic polymorphisms.
By direct sequencing method, we identified a novel mutation (Thr196Asn) in C5L2 gene. In this family, each affected family members with RP showed a heterozygous mutation in the C5L2 gene. And all the carriers with heterozygous mutation have increased serum lipid levels in this family.
The present study has extended the mutation spectrum of C5L2, and Thr196Asn mutations in C5L2 were associated with RP and serum lipid levels.