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. 2014 May 6:13:75.
doi: 10.1186/1476-511X-13-75.

A novel mutation in C5L2 gene was associated with hyperlipidemia and retinitis pigmentosa in a Chinese family

Ling-Hui Qu, Xin Jin, Liang-Mao Li, Shi-Ying Li  1 , Han-Ping Xie
Affiliations

A novel mutation in C5L2 gene was associated with hyperlipidemia and retinitis pigmentosa in a Chinese family

Ling-Hui Qu et al. Lipids Health Dis. .

Abstract

Background: 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).

Methods: 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.

Results: 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.

Conclusions: The present study has extended the mutation spectrum of C5L2, and Thr196Asn mutations in C5L2 were associated with RP and serum lipid levels.

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Figures

Figure 1
Figure 1
Morphological findings. A. Fundus pictures of the right (R) and left eye (L) of the index patient showing pallor optic discs, attenuated vessels, and characteristic pigment changes in the mid-periphery. B. ERG testing showed extinguished rod response.
Figure 2
Figure 2
Pedigree of the Chinese family with retinitis pigmentosa associated with mutations in the C5L2 gene. Genotypes are shown beneath the symbols. Affected individuals are represented by black symbols, unaffected ones by unfilled; squares signify males, circles females. Arrows mark the index patients. M refers to the mutant allele, and + means normal allele.
Figure 3
Figure 3
The DNA sequence around the mutation site. A: Mutation sequence; B: wild sequence.
Figure 4
Figure 4
Comparation between mutation carrier and wild carrier in serum lipids levels. A: TG; B: TC; C: LDL-C; D: HDL-C
See this image and copyright information in PMC

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