Pediatric Cone-Rod Dystrophy with High Myopia and Nystagmus Suggests Recessive<i>PROM1</i>Mutations

Khan, Arif O.; Bolz, Hanno J.

doi:10.3109/13816810.2014.886266

Cited by 13 publications

(18 citation statements)

References 9 publications

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“…Although previous genetic reports have described numerous PROM1 -associated retinal dystrophy phenotypes, 1 , 2 , 3 , 4 , 5 , 6 , 7 , 8 , 9 , 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 in the current study, we found that the morphological phenotype was associated with cone-rod dystrophy in all cases. The main distinction in phenotypes lies between recessive and dominant forms of the disease.…”

Section: Discussioncontrasting

confidence: 92%

“…Prominin 1 ( PROM1 ; OMIM 604365 ) is commonly associated with cone-rod dystrophies. 1 However, throughout the literature, variations in PROM1 have been implicated in extremely varied and overlapping phenotypes that have been described as retinitis pigmentosa 2 , 3 , 4 , 5 , 6 , 7 , 8 ; retinitis pigmentosa with macular involvement 9 ; retinal dystrophy 8 ; cone-rod dystrophy 1 , 8 , 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 ; bull’s-eye maculopathy 18 ; bull’s-eye maculopathy associated with rod, rod-cone, and macular dystrophy 19 ; Stargardt-like disease 20 , 21 , 22 , 23 ; macular dystrophy 24 ; and maculopathy with rod-cone dystrophy. 25 The age at onset, presenting symptoms, and severity of disease vary with sequence variations.…”

Section: Introductionmentioning

confidence: 99%

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Clinical and Molecular Characterization ofPROM1-Related Retinal Degeneration

et al. 2019

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Key Points Question What are the clinical and molecular characteristics of PROM1- related retinal degeneration? Findings In this case series of 19 patients with PROM1 -related retinal degeneration, recessive variants were associated with early-onset, severe panretinal degeneration, whereas the dominant disease was associated with the c.1117C>T variant and a late-onset, milder phenotype that predominantly involves the macula. In addition, the dominant variant was preferentially associated with cone photoreceptors. Meaning A better understanding of the clinical and molecular characteristics of PROM1- related retinal degeneration may aid development of future treatments, including gene therapy and optogenetics.

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Section: Discussioncontrasting

confidence: 92%

Section: Introductionmentioning

confidence: 99%

Clinical and Molecular Characterization ofPROM1-Related Retinal Degeneration

et al. 2019

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“…In the small intestine in mouse, Prom1 marks rare stem cells, as well as transit-amplifying progenitor cells ( 6 ). Moreover, PROM1 is expressed in both rod and cone photoreceptors of the eye ( 18 , 19 ). Prom1 also has been used as a cancer stem cell marker alone or with other markers such as CD44 ( 20 ).…”

Section: Introductionmentioning

confidence: 99%

Prom1 Function in Development, Intestinal Inflammation, and Intestinal Tumorigenesis

et al. 2014

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Prom1/CD133 has been identified in colorectal, hepatocellular, and pancreatic cancer as a cancer stem cell marker and has been used as such to predict colon cancer recurrence in humans. Its potential molecular function as well as its role as a marker of intestinal regeneration is still not fully known. We evaluated the role of Prom1 in intestinal regeneration in inflammatory bowel disease (IBD), determined the function of Prom1, and characterized the effect of a lack of Prom1 on intestinal tumor formation in animal models. Our results suggest that Apc mutations lead to an increase in Prom1 expressing cells in the intestinal crypt stem cell compartment and in early intestinal adenomas. Also, Prom1 knockout mice are more susceptible to intestinal tumor formation. We conclude that Prom1 likely plays a role in regulating intestinal homeostasis and that these results clearly illustrate the role of Prom1 in intestinal regeneration. We further conclude that Prom1 may provide a novel therapeutic target for patients with gastrointestinal conditions such as IBD, short bowel syndrome, and colorectal cancer.

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“…Multiskan GO (Thermo Fisher) was used to determine the DNA purity and concentration. We developed the IIN capture panel based on Illumina Truseq Custom Amplicon v1.5 kit . The IIN capture panel contains 239 genes ( NYS2, NYS3, NYS4, NYS5, NYS7, ABCA4, ABCB6, PROM1, TYR, PAX6, GPR143, SIX6, DLAT , etc with completed coding regions) with a proven relationship to pathogenesis (genes list available as Appendix ).…”

Section: Methodsmentioning

confidence: 99%

Next‐generation sequencing identifies a novel frameshift variant in FRMD7 in a Chinese family with idiopathic infantile nystagmus

Wang

Guan

Liu

et al. 2019

Clinical Laboratory Analysis

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Idiopathic infantile nystagmus (IIN) is a common heterogeneous oculomotor disease, (frequency of 1/1500 live births) characterized by involuntary periodic rhythmic oscillation of the eyes in the very early life, and can result in decreased visual acuity due to the images excessively moved on the retina. The oscillatory patterns of the eye can be horizontal, vertical, and mixed, and the horizontal is the most common. [1][2][3][4] IIN was incidental accompanied with compensatory head posture as well as squint, ametropia, anterior segment lesions, ocular fundus diseases, myopia, hypermetropia, astigmatism, but rare with ablepsia or color deficiency. IIN usually onsets in the early 6 months after birth and accompanies all the lifetime. As the treatment for its alleviation mainly lies in surgery, the prevention for IIN is of vital importance.Idiopathic infantile nystagmus is generally inherited by autosomal dominant, autosomal recessive, or X-linked manner. X-linked inheritance is also associated with pathologic mutations including FRMD7 (Xq26.2) and GPR143 (Xp22.3), and FRMD7 mutations are more common than GPR143 in IIN. 5 Apart for IIN, FRMD7 mutations are involved in congenital motor nystagmus and GPR143 in ocular albinism, respectively. 3 Abstract Background: Idiopathic infantile nystagmus (IIN) is a high genetically heterogeneous ophthalmic disease and is often associated with pathogenic mutations in FRMD7 and GPR143, respectively. Idiopathic infantile nystagmus manifests as involuntary periodic rhythmic oscillation of the eyes in the very early life, which decreases visual acuity and affects the quality of life. Objective and Methods:The aim of our study was to reveal a possible pathogenic variant through the investigation of a Chinese Han family with IIN with an implementation of a next-generation sequencing method. Isolated DNA analysis was followed by Sanger sequencing validation. We also performed the detailed ophthalmological examination of family members. Results:We identified a novel frameshift variant in FRMD7 (NM_194277.2: c.1419_1422dup, p.Tyr475fs), which leads to a frameshift mutation since tyrosine (Tyr) at 475 codon of FRMD7 protein (p.Tyr475fs) and co-segregates with IIN phenotype in this family. Conclusions:We found a novel frameshift FRMD7 variant in a Chinese Han family, which may be causative variant for IIN and can further enrich the mutation spectrum and uncover the etiology of IIN. K E Y W O R D S FRMD7, idiopathic infantile nystagmus, Next-generation sequencing, variant S U PP O RTI N G I N FO R M ATI O N Additional supporting information may be found online in the Supporting Information section at the end of the article. How to cite this article: Wang F, Guan H, Liu W, Zhao G, Liu S. Next-generation sequencing identifies a novel frameshift variant in FRMD7 in a Chinese family with idiopathic infantile nystagmus. J Clin Lab Anal. 2020;34:e23012. https ://doi.

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Pediatric Cone-Rod Dystrophy with High Myopia and Nystagmus Suggests RecessivePROM1Mutations

Cited by 13 publications

References 9 publications

Clinical and Molecular Characterization ofPROM1-Related Retinal Degeneration

Clinical and Molecular Characterization ofPROM1-Related Retinal Degeneration

Prom1 Function in Development, Intestinal Inflammation, and Intestinal Tumorigenesis

Next‐generation sequencing identifies a novel frameshift variant in FRMD7 in a Chinese family with idiopathic infantile nystagmus

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