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

Mao, Xiying; Chen, Mingkang; Yan, Yu; Liu, Qing-Huai; Yuan, Songtao; Fan, Wen

doi:10.1186/s12886-021-01905-7

Cited by 4 publications

(5 citation statements)

References 23 publications

(11 reference statements)

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Other associations in the literature found in our patients were hyperopic refractive error, posterior embryotoxon, and strabismus [16]. Interestingly, ERG testing conducted by Mao et al [17] in one Chinese family that had the GPR143 mutations was found to give attenuated bwave in full-field ERG unlike our case and previous literature. Another differential diagnosis is mentioned by Takkar et al [18] who reported X-linked foveal hypoplasia in a patient with dyschromatosis universalis hereditaria.…”

Section: Discussioncontrasting

confidence: 47%

Apparently X-linked Foveal Hypoplasia of Two Brothers: A Report of a Rare Case

Alarfaj,

Alhashim,

Alotaibi

et al. 2024

Cureus

View full text Add to dashboard Cite

Foveal hypoplasia is a retinal disorder characterized by the anatomic absence of the foveal pit. It might be isolated or associated with poor vision and several conditions such as albinism, aniridia, microphthalmos, congenital nystagmus, or other diseases. Genetic and non-genetic causes can play a role in foveal pit development. However, the exact mechanism that causes foveal pit absence has not been determined. This study reports a five-year-old boy who presented to the eye clinic with bilateral poor vision since birth. Optical coherence tomography (OCT) was performed and confirmed the absence of the foveal pit in both eyes. Diagnosis of foveal hypoplasia was made. The parents reported a positive family history of similar conditions, specifically, a paternal grandfather, a male paternal cousin, and a brother. To the best of our knowledge, this is the first reported case of foveal hypoplasia, with a positive family history in the male gender specifically. Thus, inheritance is presumed to be X-linked recessive. We acknowledge that further investigation by genetic testing would offer further insight into this case.

show abstract

Section: Discussioncontrasting

confidence: 47%

Apparently X-linked Foveal Hypoplasia of Two Brothers: A Report of a Rare Case

Alarfaj,

Alhashim,

Alotaibi

et al. 2024

Cureus

View full text Add to dashboard Cite

show abstract

“…Para el diagnostico de AO son necesarias las anomalías oftalmológicas, entre ellas la hipopigmentación del iris, pigmentación retiniana reducida que permite visualizar los cascos coroideos y la hipoplasia fóveal. La decusación del nervio óptico está asociada a estrabismo alternante y visión estereoscópica alterada (41)(42)(43)(44)(45)(46)(47)(48)(49)(50)(51)(52)(53)(54)(55).…”

Section: Diagnósticounclassified

“…• Hipoplasia fóveal, defectos de decusación del nervio óptico y disgenesia del segmento anterior sin albinismo • Ceguera nocturna estacionaria congénita tipo 2 (41,47).…”

Section: Diagnóstico Diferencialunclassified

“…Para la corrección se requiere realizar una resección muscular(12,44). Se cree que esta manifestación del albinismo se atribuye directamente a la mutación del gen GPR143, razón por la cual este nistagmo es genético y ligado al cromosoma X en los hombres(47).c. Fibras oculares desviadasEn individuos sanos, las fibras retinianas de forma normal, se decusan en el quiasma óptico(37).…”

unclassified

See 1 more Smart Citation

Revisión bibliográfica sobre Albinismo Oculocutáneo y Ocular

Bravo Arcos,

Muñoz Moscoso,

Benavides Cordero

et al. 2023

Salud

View full text Add to dashboard Cite

Resumen El albinismo es el conjunto de condiciones hereditarias en donde existe la disminución o ausencia de la pigmentación en piel y cabello, así como la pigmentación ocular, ocasionando albinismo ocular. Esta patología es de carácter hereditario y está ligado al cromosoma X, afectando en su mayoría a varones. Su origen está ligado al defecto del gen de la proteína G143 y su receptor, específicamente a una mutación de la enzima tirosinasa, productora de melanina. Es una enfermedad de presentación poco frecuente, con una incidencia de 1 por cada 60.000 habitantes, y sus diversos tipos se manifiestan alrededor del mundo con variaciones acorde a cada etnia y mutación genética. Los ojos y el sistema visual presentarán defectos anatómicos, ausencia de pigmentación en el iris, disminución de la agudeza visual, nistagmo, estrabismo y anormalidades en la funcionalidad refractaria. Su diagnóstico se realiza mediante el uso de criterios diagnósticos mayores y menores, relacionándose con su tratamiento respectivo, según sea el caso. El albinismo ocular no tiene cura permanente, por lo tanto, su manejo se centra en el control de la clínica presentada, con el objetivo de mejorar y mantener el estilo de vida del paciente.

show abstract

“…In addition, iris translucency, foveal hypoplasia and hypopigmentation of the retina ( O’Donnell et al, 1976 ; Bassi et al, 1995 ) is evident upon ophthalmologic examination of OA1 patients. Nystagmus, which is observed at around 6 months after birth, can be the first indication of ocular albinism ( Liu et al, 2007 ; Mao et al, 2021 ). Female carriers display a mosaic pattern of ocular (hypo)pigmentation as a result of the inactivation of the affected X chromosome ( Falls, 1951 ; Lang et al, 1990 ).…”

Section: Gpr143 and Diseasesmentioning

confidence: 99%

The Many Faces of G Protein-Coupled Receptor 143, an Atypical Intracellular Receptor

Bueschbell

Manga

Schiedel

2022

Front. Mol. Biosci.

View full text Add to dashboard Cite

GPCRs transform extracellular stimuli into a physiological response by activating an intracellular signaling cascade initiated via binding to G proteins. Orphan G protein-coupled receptors (GPCRs) hold the potential to pave the way for development of new, innovative therapeutic strategies. In this review we will introduce G protein-coupled receptor 143 (GPR143), an enigmatic receptor in terms of classification within the GPCR superfamily and localization. GPR143 has not been assigned to any of the GPCR families due to the lack of common structural motifs. Hence we will describe the most important motifs of classes A and B and compare them to the protein sequence of GPR143. While a precise function for the receptor has yet to be determined, the protein is expressed abundantly in pigment producing cells. Many GPR143 mutations cause X-linked Ocular Albinism Type 1 (OA1, Nettleship-Falls OA), which results in hypopigmentation of the eyes and loss of visual acuity due to disrupted visual system development and function. In pigment cells of the skin, loss of functional GPR143 results in abnormally large melanosomes (organelles in which pigment is produced). Studies have shown that the receptor is localized internally, including at the melanosomal membrane, where it may function to regulate melanosome size and/or facilitate protein trafficking to the melanosome through the endolysosomal system. Numerous additional roles have been proposed for GPR143 in determining cancer predisposition, regulation of blood pressure, development of macular degeneration and signaling in the brain, which we will briefly describe as well as potential ligands that have been identified. Furthermore, GPR143 is a promiscuous receptor that has been shown to interact with multiple other melanosomal proteins and GPCRs, which strongly suggests that this orphan receptor is likely involved in many different physiological actions.

show abstract

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

Cited by 4 publications

References 23 publications

Apparently X-linked Foveal Hypoplasia of Two Brothers: A Report of a Rare Case

Apparently X-linked Foveal Hypoplasia of Two Brothers: A Report of a Rare Case

Revisión bibliográfica sobre Albinismo Oculocutáneo y Ocular

The Many Faces of G Protein-Coupled Receptor 143, an Atypical Intracellular Receptor

Contact Info

Product

Resources

About