Hypertriglyceridemia associated with amino acid variation Asn985Tyr of the RP1 gene

Fujita, Yūkō; Ezura, Yoichi; Emi, Mitsuru; Ono, Shuji; Takada, Daisuke; Takahashi, Kaneo; Uemura, Kouhei; Iino, Yuichi; Katayama, Yasuo; Bujo, Hideaki; Saitō, Yasushi

doi:10.1007/s10038-003-0029-z

Cited by 9 publications

(2 citation statements)

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“…A few studies into the genetic polymorphisms of the C5L2 receptor located on chromosome 19q13 (the region identified to be associated with familial combined hyperlipidemia and the pre-diabetic state by genome-wide scan studies) have been completed [17,18]. Familial combined hyperlipidemia is considered to be the most frequent lipoprotein disorder in RP [3-5]. Therefore, the C5L2 gene is thought to be a candidate gene for RP.…”

Section: Discussionmentioning

confidence: 99%

“…The previous studies suggested that lipid metabolism was abnormal in patients with RP [3,4]. And Fujita et al reported an association between a missense coding region polymorphism Asn985Tyr in the retinitis pigmentosa 1 gene (RP1), a causal gene for RP, and plasma triglyceride (TG) levels in 332 adult Japanese [5]. These evidences suggested that abnormal metabolism of lipids may be associated with the RP patients.…”

Section: Introductionmentioning

confidence: 99%

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

Jin

Li³

et al. 2014

Lipids Health Dis

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BackgroundPrevious 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).MethodsThe 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.ResultsBy 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.ConclusionsThe 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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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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

Jin

Li³

et al. 2014

Lipids Health Dis

View full text Add to dashboard Cite

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Molecular Diagnosis of Genodermatoses

Wessagowit

2012

Methods in Molecular Biology

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The progress of molecular genetics helps clinicians to prove or exclude a suspected diagnosis for a vast and yet increasing number of genodermatoses. This leads to precise genetic counselling, prenatal diagnosis and preimplantation genetic haplotyping for many inherited skin conditions. It is also helpful in such occasions as phenocopy, late onset and incomplete penetrance, uniparental disomy, mitochondrial inheritance and pigmentary mosaicism. Molecular methods of two genodermatoses are explained in detail, i.e. genodermatoses with skin fragility and neurofibromatosis type 1.

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