Identification of a Disease-Causing Mutation in a Chinese Patient with Retinitis Pigmentosa by Targeted Next-Generation Sequencing

Xiao, Jia; Guo, Xueqin; Wang, Yong; Shao, Mingkun; Wei, Xiaoming; Du, Liangcheng; Li, Long; Sun, Yan; Yang, Yun

doi:10.5301/ejo.5000971

Cited by 2 publications

(1 citation statement)

References 24 publications

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“…Of these, PRPF3, PRPF8, and PRPF31, together with SNRNP200, are the major causative genes of RP. Indeed, the U4/U6-U5 tri-snRNP complex is composed of PRPF3, PRPF8, PRPF31, and SNRNP200 and is a major component of the spliceosome that participates in mRNA splicing [4,27,44,45]. More specifically, SNRNP200 encodes helicase hBrr2, a 200-KDa protein.…”

Section: Prpf3 Prpf4 Prpf6 Prpf8 Prpf31 and Snrnp200mentioning

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

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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: Prpf3 Prpf4 Prpf6 Prpf8 Prpf31 and Snrnp200mentioning

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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Genetic and clinical findings of panel‐based targeted exome sequencing in a northeast Chinese cohort with retinitis pigmentosa

Sun

et al. 2020

Molec Gen & Gen Med

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Background: Panel-based targeted exome sequencing was used to analyze the genetic and clinical findings of targeted genes in a cohort of northeast Chinese with retinitis pigmentosa. Methods: A total of 87 subjects, comprising 23 probands and their family members (total patients: 32) with confirmed retinitis pigmentosa were recruited in the study.Panel-based targeted exome sequencing was used to sequence the patients and family members, all subjects with retinitis pigmentosa underwent a complete ophthalmologic examination. Results: Of the 23 probands, the clinical manifestations include night blindness, narrowing of vision, secondary cataracts, choroidal atrophy, color blindness, and high myopia, the average age of onset of night blindness is 12.9 ± 14 (range, 0-65; median, 8). Posterior subcapsular opacities is the most common forms of secondary cataracts (nine cases, 39.1%), and peripheral choroidal atrophy is the most common form of secondary choroidal atrophy (12 cases, 52.2%). Of these probands with complication peripheral choroidal atrophy, there were eight probands (66.7%, 8/12) caused by the pathogenic variation in USH2A gene. A total of 17 genes and 45 variants were detected in 23 probands. Among these genes, the commonest genes were USH2A (40%; 18/45), RP1 (15.6%; 7/45), and EYS (8.9%; 4/45), and the top three genes account for 56.5% (13/23) of diagnostic probands. Among these variants, comprising 22 (48.9%) pathogenic variants, 14 (31%) likely pathogenic variants, and nine (20%) uncertain clinical significance variants, and 22 variants was discovered first time. Most of the mutations associated with RP were missense (53.3%, 24/45), and the remaining mutation types include frameshift (35.6%, 16/45), nonsense (6.7%, 3/45), and spliceSite (4.4%, 2/45). Among the probands with mutations detected, compound heterozygous forms was detected in 13 (56.5%, 13/23) 2 of 12 | SUN et al.

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Identification of a Disease-Causing Mutation in a Chinese Patient with Retinitis Pigmentosa by Targeted Next-Generation Sequencing

Cited by 2 publications

References 24 publications

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

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

Genetic and clinical findings of panel‐based targeted exome sequencing in a northeast Chinese cohort with retinitis pigmentosa

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