Screening for mutations in RPGR and RP2 genes in Jordanian families with X-linked retinitis pigmentosa

Haddad, Meriem; Khabour, Omar F.; Abuzaideh, K.A.Y.; Shihadeh, Wisam

doi:10.4238/gmr.15027842

Cited by 4 publications

(3 citation statements)

References 22 publications

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“…A large deletion in RP2 and four frameshift RPGR mutations have been identified in five families from China affected by xlRP [10]. Mutations in these genes have also been detected in Jordanian families with this disease [113]. Furthermore, disease-causing mutations have been identified in Japanese and other populations [29].…”

Section: C8orf37mentioning

confidence: 97%

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A review of recent developments in retinitis pigmentosa genetics, its clinical features, and natural course

Loukovitis¹,

Anastasia²,

Tranos³

et al. 2021

Med Hypothesis Discov Innov Ophthalmol

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Background: Retinitis pigmentosa (RP), an inherited degenerative ocular disease, is considered the most common type of retinal dystrophy. Abnormalities of the photoreceptors, particularly the rods, and of the retinal pigment epithelium, characterizes this disease. The abnormalities progress from the midperiphery to the central retina. We here reviewed the developments in RP genetics in the last decade, along with its clinical features and natural course. Methods: The present review focused on articles in English language published between January 2008 and February 2020, and deposited in PubMed and Google Scholar databases. We searched for articles reporting on the clinical manifestations and genes related to both syndromic and non-syndromic RP. We screened and analyzed 139 articles, published in the last decade, referring to RP pathogenesis and identified, summarized, and highlighted the most significant genes implicated in either syndromic or non-syndromic RP pathogenesis, causing different clinical manifestations. Results: Recent literature revealed that approximately 80 genes are implicated in non-syndromic RP, and 30 genes in syndromic forms, such as Usher syndrome and Bardet‒Biedl syndrome (BBS). Moreover, it is estimated that 27 genes are implicated in autosomal dominant RP (adRP), 55 genes in autosomal recessive RP (arRP), and 6 genes in X-linked RP (xlRP), causing different RP phenotypes. Characteristically, RHO is the most prevalent adRP- and arRP-causing gene, and RPGR the most common xlRP-causing gene. Other important genes are PRPH2, RP1, CRX, RPE65, ABCA4, CRB1, and USH2Α. However, different phenotypes can also be caused by mutations in the same gene. Conclusions: The genetic heterogeneity of RP necessitates further study to map the exact mutations that cause more severe forms of RP, and to develop and use appropriate genetic or other effective therapies in future.

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Section: C8orf37mentioning

confidence: 97%

“…However, they are thought to be a rare cause of retinal dystrophy in this population [41]. RPGR RPGR, located on Xp11.4 [6,112], RP2, and OFD1 are genes associated with xlRP [10,113]. Mutations in RPGR are responsible for approximately 70-90% of xlRP cases and mutations in RP2 cause around 6-20% of xlRP cases [10,114].…”

Section: C8orf37mentioning

confidence: 99%

A review of recent developments in retinitis pigmentosa genetics, its clinical features, and natural course

Loukovitis¹,

Anastasia²,

Tranos³

et al. 2021

Med Hypothesis Discov Innov Ophthalmol

View full text Add to dashboard Cite

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“…10 Similarly, there are xlRP cases among Jordanian, Japanese or patients of other ethnicities with diseasecausing mutation in RP2 or RPGR. 20,26 RPGR gene mutation may also cause LCA or RP of early onset, whereas in other benign cases visual acuity was stable until the age of forty. 27 Males appear with nyctalopia and visual impairment, while carrier females have milder phenotypes, mainly characterized by various degrees of myopia.…”

Section: Rpgr Gene -Rp2 Genementioning

confidence: 99%

Recent Developments on the major genes involved in retinitis pigmentosa

A¹,

D²,

A³

et al. 2020

IJOOO

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Retinitis pigmentosa (RP) is a common retinal dystrophy that affects millions of individuals, of both sexes, worldwide. The age of onset and the phenotypic characteristics vary between patients of different ethnicities. It may be syndromic when it coexists with several syndromes, like Usher syndrome, or nonsyndromic. It follows autosomal dominant, autosomal recessive or X-linked inheritance. RP is genetically heterogeneous with, approximately, one hundred genes identified to date. The present mini review includes articles about the pathogenesis of syndromic and non-syndromic RP. Eighty-seven papers written in English and published in the last decade, about the pathogenesis of RP were reviewed and analyzed in order to summarize and highlight the major genes implicated in RP. We identified more than 80 genes associated with syndromic and 30 genes with non-syndromic RP. Among them RHO and RPGR, followed by PRPH2, PRPF31 and RP2 are the major genes involved in RP.

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