Molecular screening of the LPCAT1 gene in patients with retinitis pigmentosa without defined mutations in known retinitis pigmentosa genes

Wu,Juan; Wang,Hong‑Ting; Huang,Xiu‑Feng; Lei,Xin‑Lan; Lu,Qin‑Kang; Jin,Zi‑Bing

doi:10.3892/mmr.2015.4204

Molecular screening of the LPCAT1 gene in patients with retinitis pigmentosa without defined mutations in known retinitis pigmentosa genes

Authors:
- Juan Wu
- Hong‑Ting Wang
- Xiu‑Feng Huang
- Xin‑Lan Lei
- Qin‑Kang Lu
- Zi‑Bing Jin
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Affiliations: Division of Ophthalmic Genetics, Laboratory for Stem Cell and Retinal Regeneration, The Eye Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325027, P.R. China, Department of Ophthalmology, Yinzhou People's Hospital, Medical School of Ningbo University, Ningbo, Zhejiang 315040, P.R. China
Published online on: August 10, 2015 https://doi.org/10.3892/mmr.2015.4204
Pages: 5983-5988

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Abstract

Retinitis pigmentosa (RP) is an inherited retinopathy, which affects the photoreceptors in the retina. Lysophosphatidylcholine acyltransferase (LPCAT) is a critical phospholipid biosynthesis enzyme, which promotes the conversion of lysophosphatidylcholine into phosphatidylcholine in the remodeling pathway of PC biosynthesis. A previous study reported a homozygous insertion in the LPCAT1 gene in mice exhibiting retinal degeneration (rd11). However, whether genetic mutations in LPCAT1 predispose individuals to RP remains to be elucidated. Therefore, the aim of the present study was to investigate whether LPCAT1 mutations exist in patients with RP. A total of 50 unrelated patients diagnosed with either a sporadic or recessive inheritance pattern of RP were recruited in the present study. All of the patients were comprehensively screened for genes associated with the predisposition of RP, and no pathogenic mutations were identified. Reverse transcription-polymerase chain reaction and Sanger sequencing were performed to investigate the coding regions and exon‑intron boundaries of the LPCAT1 gene in the recruited patients. In total, three genetic variations in the coding regions, which lead to amino acid changes, were identified. Although two of these mutations were predicted to be pathogenic, co‑segregation analysis in the pedigrees excluded these as disease‑causing mutations. In addition, the LPCAT1 gene was screen in a panel of RP patients who exhibited no identifiable mutations in any of the known RP‑associated genes. No disease‑causing mutations in the LPCAT1 gene were identified, indicating that LPCAT1 either does not confer a genetic predisposition to RP, or that the incidence of mutations in LPCAT1 is particularly rare in patients with RP.

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