GPR143 mutations in Chinese patients with ocular albinism type 1

Jia, Xian; Yuan, Jin; Jia, Xiaoyun; Ling, Shiqi; Li, Shiqiang; Guo, Xiangming

doi:10.3892/mmr.2017.6366

Cited by 5 publications

(4 citation statements)

References 18 publications

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“…In the examination of the anterior segment, all patients with OA1, with the exception of one, exhibited iris depigmentation in the shape of a ring or fan. This is consistent with previous reports in Chinese OA1 families (14,29).…”

Section: Discussionsupporting

confidence: 94%

A novel GPR143 mutation in a Chinese family with X‑linked ocular albinism type 1

et al. 2019

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Ocular albinism type 1 (OA1) is a genetic disorder characterized by reduced eye pigmentation and nystagmus, which is often accompanied by decreased visual acuity, strabismus and other symptoms, whereas skin and hair color remain normal. The present study aimed to assess the clinical features and perform genotype analysis of a family with OA1, and to determine the disease-causing mutation. A total of 18 family members (nine affected patients and nine normal subjects) from Hainan, China, were recruited to the present study in December 2017. A detailed clinical ophthalmic examination was performed for all participants, including a visual acuity test, anterior segment slit lamp examination, eye fundus examination and optical coherence tomography. Mutations in the G protein-coupled receptor 143 (GPR143) gene were determined by DNA sequencing assays and polymerase chain reaction assays for deletions; all exon coding sequences, exons at the 5′- and 3′-ends, and non-coding region sequences of intron splicing were assessed. Within the family, nine male patients exhibited disease occurrence at the age of 0–6 months. All patients presented with different degrees of iris depigmentation, horizontal jerk nystagmus, foveal hypoplasia and reduced visual acuity. The fundus of only one patient exhibited choroid coloboma; in the remaining patients, their fundi exhibited different degrees of irregular retinal depigmentation. The mutation c.360+5G>T in the GPR143 gene was identified in this family. In conclusion, the present study identified the splicing mutation c.360+5G>T in the GPR143 gene in a Chinese family with OA1 and successfully identified the site. To the best of our knowledge, there have been no previous reports regarding this mutation in any major genome databases; therefore, this outcome may enrich the mutation spectrum of the GPR143 gene.

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Section: Discussionsupporting

confidence: 94%

A novel GPR143 mutation in a Chinese family with X‑linked ocular albinism type 1

et al. 2019

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“…It has been found from some studies that, unlike the TYR gene-related albinism, GPR143 gene-related albinism is more likely to be complicated with a short ocular axis [ 44 ]. In 2022, Pavan Verkicharla analyzed the refractive status of 618 albinos and found that high myopia being much more prevalent than hyperopia [ 45 ], suggesting that high myopia is also a common sign in albinism, and that if patients are complicated with high myopia, then, as in this case, albinism-like fundus changes are often less typical, so that OA1 is often misdiagnosed as idiopathic congenital nystagmus [ 46 ].…”

Section: Discussionmentioning

confidence: 99%

Novel mutations of the X-linked genes associated with early-onset high myopia in five Chinese families

Zi,

Li,

Cheng

et al. 2023

BMC Med Genomics

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Purpose To report novel pathogenic variants of X-linked genes in five Chinese families with early-onset high myopia (eoHM) by using whole-exome sequencing and analyzing the phenotypic features. Methods 5 probands with X-linked recessive related eoHM were collected in Ningxia Eye Hospital from January 2021 to June 2022. The probands and their family members received comprehensive ophthalmic examinations,and DNA was abstracted from patients and family members. Whole-exome sequencing was performed on probands to screen the causative variants, and all suspected pathogenic variants were determined by Sanger sequencing and co-segregation analysis was performed on available family members. The pathogenicity of novel variants was predicted using silico analysis and evaluated according to ACMG guidelines. RT-qPCR was used to detect differences in the relative mRNAs expression of candidate gene in mRNAs available with the proband and family members in the pedigree 2. The relationship between genetic variants and clinical features was analyzed. Results All probands were male, and all pedigrees conformed to an X-linked recessive inheritance pattern. They were diagnosed with high myopia at their first visits between 4 and 7 years old. Spherical equivalent ranged between − 6.00D and − 11.00D.The five novel hemizygous variants were found in the probands, containing frameshift deletion variant c.797_801del (p.Val266Alafs*75) of OPN1LW gene in the pedigree 1, nonsense variant c.513G > A (p.Trp171Ter)of RP2 gene in the pedigree 2, missense variant c.98G > T (p.Cys33Phe) of GPR143 gene in the pedigree 3, frameshift deletion variant c.1876_1877del (p.Met626Valfs*22) of FRMD7 gene in the pedigree 4 and inframe deletion variant c.670_ 675del (p.Glu192_ Glu193del) of HMGB3 gene in the pedigree 5. All variants were classified as pathogenic or likely pathogenic by the interpretation principles of HGMD sequence variants and ACMG guidelines. In family 2, RT-qPCR showed that the mRNA expression of RP2 gene was lower in the proband than in other normal family members, indicating that such variant caused an effect on gene function at the mRNA expression level. Further clinical examination showed that pedigrees 1, 2, 3, and 4 were diagnosed as X-linked recessive hereditary eye disease with early-onset high myopia, including quiescent cone dysfunction, retinitis pigmentosa, ocular albinism, and idiopathic congenital nystagmus respectively. The pedigree 5 had eoHM in the right eye and ptosis in both eyes. Conclusion In this paper,we are the first to report five novel hemizygous variants in OPN1LW, RP2, GPR143, FRMD7, HMGB3 genes are associated with eoHM. Our study extends the genotypic spectrums for eoHM and better assists ophthalmologists in assessing, diagnosing, and conducting genetic screening for eoHM.

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“…The early sign of OA1 is mostly nystagmus that usually appears within 6 months after birth [ 2 ]. Since iris and fundus hypopigmentation is not obvious among Asians, OA1 is usually misdiagnosed as the congenital idiopathic nystagmus [ 3 – 5 ]. Up to date, more than one hundred mutations in the GPR143 gene have been identified in OA1 in the world, but GPR143 variants without nystagmus have been rarely reported [ 6 ].…”

Section: Introductionmentioning

confidence: 99%

Identification of a novel GPR143 mutation in a large Chinese family with isolated foveal hypoplasia

et al. 2021

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Background Pathogenic variants of G-protein coupled receptor 143 (GPR143) gene often leads to ocular albinism type I (OA1) characterized by nystagmus, iris and fundus hypopigmentation, and foveal hypoplasia. In this study, we identified a novel hemizygous nonsense mutation in GPR143 that caused an atypical manifestation of OA1. Case presentation We reported a large Chinese family in which all affected individuals are afflicted with poor visual acuity and foveal hypoplasia without signs of nystagmus. Fundus examination of patients showed an absent foveal reflex and mild hypopigmentation. The fourth grade of foveal hypoplasia and the reduced area of blocked fluorescence at foveal region was detected in OCT. OCTA imaging showed the absence of foveal avascular zone. In addition, the amplitude of multifocal ERG was reduced in the central ring. Gene sequencing results revealed a novel hemizygous mutation (c.939G > A) in GPR143 gene, which triggered p.W313X. However, no iris depigmentation and nystagmus were observed among both patients and carriers. Conclusions In this study, we reported a novel nonsense mutation of GPR143 in a large family with poor visual acuity and isolated foveal hypoplasia without nystagmus, which further expanded the genetic mutation spectrum of GPR143.

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GPR143 mutations in Chinese patients with ocular albinism type 1

Cited by 5 publications

References 18 publications

A novel GPR143 mutation in a Chinese family with X‑linked ocular albinism type 1

A novel GPR143 mutation in a Chinese family with X‑linked ocular albinism type 1

Novel mutations of the X-linked genes associated with early-onset high myopia in five Chinese families

Identification of a novel GPR143 mutation in a large Chinese family with isolated foveal hypoplasia

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