A Novel Nonsense Mutation of the GPR143 Gene Identified in a Chinese Pedigree with Ocular Albinism

Yan, Naihong; Liao, Xuan; Cai, Suping; Lan, Chang-Jun; Wang, Yun; Zhou, Xiaomin; Yin, Yuan; Yu, Wenhan; Liu, Xuyang

doi:10.1371/journal.pone.0043177

Cited by 11 publications

(7 citation statements)

References 22 publications

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“…Since mutations in FRMD7 or GPR143 both can cause XLICN, we reviewed the literature to collect the available data of these two genes mutations and BCVA data, which was summarized in Table 2. We observed that patients with mutations in GPR143 have worse BCVA192021, compared to those with mutations in FRMD7 222. Study data is consistent with the reported literature indicating a better BCVA in FRMD7 compared to GPR143 patients.…”

Section: Discussionsupporting

confidence: 92%

Identification of Three Novel Mutations in the FRMD7 Gene for X-linked Idiopathic Congenital Nystagmus

Zhang

Yu³

et al. 2014

Sci Rep

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Idiopathic congenital nystagmus (ICN) consists of involuntary and periodic ocular motility, often with seriously reduced visual acuity. To identify the genetic defects associated with X-linked ICN, we performed PCR-based DNA direct sequencing of two candidate genes, FRMD7 and GPR143, in four families. Mutation analysis led to identification of three novel mutations, p.S260R, p.Q487X, and p.V549Y fsX554, in FRMD7 in three of the recruited families. Results from structural modeling indicated that the p.S260R may potentially disrupt FRMD7 function through loss of a phosphorylation site and/or interference with protein-protein interactions. Both p.Q487X, and p.V549Y fsX554 mutations were predicted to generate nonfunctional truncated proteins. Using a capture next generation sequencing method, we excluded CASK as the responsible gene for the remaining family. Combining sequence analysis and structural modeling, we report three novel mutations in FRMD7 in three independent families with XLICN, and provide molecular insights for future XLICN diagnosis and treatment.

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Section: Discussionsupporting

confidence: 92%

Identification of Three Novel Mutations in the FRMD7 Gene for X-linked Idiopathic Congenital Nystagmus

Zhang

Yu³

et al. 2014

Sci Rep

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“…Mutation of GPCR143 leads to ocular albinism 152 . Two putative HREs were identified at the -806 and -1661 of the promoter region and two HRE sites were identified at +230 and 446 after start site of the GPCR143 gene.…”

Section: Additional Melanogenesis Genes With Putative Hre Sitesmentioning

confidence: 99%

Putative role of HIF transcriptional activity in melanocytes and melanoma biology

Zbytek¹,

Peacock

Seagroves

et al. 2013

Dermato-Endocrinology

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Hypoxia-inducible factor-1α (HIF-1α) is a highly oxygen sensitive bHLH protein that is part of the heterodimeric HIF-1 transcription factor. Under hypoxic stress, HIF-1 activity is induced to control expression of multiple downstream target genes, including vascular endothelial growth factor (VEGF). The normal epidermis exists in a constant mild hypoxic microenvironment and constitutively expresses HIF-1α and HIF-2α. Expression of HIF-1α and/or HIF-2α has been suggested to correlate with the increased malignant potential of melanocytes, therefore, failures of melanoma therapies may be partially linked to high HIF activity. Notably, melanomas that have the V600E BRAF mutation exhibit increased HIF-1α expression. We have utilized a bioinformatics approach to identify putative hypoxia response elements (HREs) in a set of genes known to participate in the process of melanogenesis (includingTRPM1, SLC45A2, HRAS, C-KIT, PMEL and CRH). While some of the mechanistic links between these genes and the HIF pathway have been previously explored, others await further investigation. Although agents targeting HIF activity have been proposed as novel treatment modalities for melanoma, there are currently no clinical trials in progress to test their efficacy in melanoma.

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“…Genomic DNA was isolated from peripheral leukocytes using the QIAamp DNA Blood Midi Kit (Qiagen, Hilden, Germany) according to the manufacturer’s protocol. GPR143 exons and adjacent sequences were amplified by the polymerase chain reaction (PCR) using primers published previously 7 . After purification, amplicons were sequenced using forward and reverse primers on an ABI 3730 Genetic Analyzer (ABI, Foster City, CA).…”

Section: Methodsmentioning

confidence: 99%

“…Various types of mutations in GPR143 have been identified in patients from different countries; however, the characteristics of OA1 have not been well defined in Asians. X-linked OA1 in the Chinese population has been rarely reported 7 8 9 10 11 12 13 14 15 . As iris and fundus hypopigmentation is not obvious among the Chinese patients, it is difficult to distinguish OA1 from other congenital eye diseases, such as Leber congenital amaurosis (LCA), achromatopsia or congenital motor nystagmus (CMN).…”

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confidence: 99%

Molecular genetic and clinical evaluation of three Chinese families with X-linked ocular albinism

Zou

Yang

et al. 2017

Sci Rep

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X-linked ocular albinism (OA1) is an X-linked inherited disease characterized by hypopigmentation of the fundus and nystagmus. Our study performed mutation analysis of the G protein-coupled receptor 143 gene (GPR143) and assessed the clinical characteristics of OA1 in three Chinese families. Three novel mutations, c.333_360+14del42insCTT, c.276G>A (p.W92X), and c.793C>T (p.R265X), were identified in GPR143 by PCR followed by Sanger sequencing in these families. All affected individuals presented with nystagmus, photophobia, poor visual acuity, foveal hypoplasia and varying degrees of hypopigmentation of the fundus. The fundus of female carriers showed pigmented streaks alternating with hypopigmented streaks. These results allowed us to expand the spectrum of mutations in GPR143 and phenotypes associated with ocular albinism.

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A Novel Nonsense Mutation of the GPR143 Gene Identified in a Chinese Pedigree with Ocular Albinism

Cited by 11 publications

References 22 publications

Identification of Three Novel Mutations in the FRMD7 Gene for X-linked Idiopathic Congenital Nystagmus

Identification of Three Novel Mutations in the FRMD7 Gene for X-linked Idiopathic Congenital Nystagmus

Putative role of HIF transcriptional activity in melanocytes and melanoma biology

Molecular genetic and clinical evaluation of three Chinese families with X-linked ocular albinism

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