title: A novel mutation in C5L2 gene was associated with hyperlipidemia and retinitis pigmentosa in a Chinese family.
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.
authors.forename: Ling-Hui
authors.initials: LH
authors.lastname: Qu
authors.forename: Xin
authors.initials: X
authors.lastname: Jin
authors.forename: Liang-Mao
authors.initials: LM
authors.lastname: Li
authors.affiliation: Southwest Eye Hospital, Southwest Hospital, Third Military Medical University, 30 Gaotanyan Road, Chongqing 400038, China. zhengqin@163.com.
authors.forename: Shi-Ying
authors.initials: SY
authors.lastname: Li
authors.forename: Han-Ping
authors.initials: HP
authors.lastname: Xie
mesh_terms: D044466:Asian People; D005260:Female; D008040:Genetic Linkage / Q000235:genetics; D006801:Humans; D006949:Hyperlipidemias / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree; D044087:Receptor, Anaphylatoxin C5a; D019707:Receptors, Chemokine / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000235:genetics*
chemical_list: C417003:C5aR2 protein, human; D044087:Receptor, Anaphylatoxin C5a; D019707:Receptors, Chemokine