Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa

Lin, Liang-In; Jiao, Xiaodong; D’Atri, Ilaria; Ono, Fumihito; Nelson, Ralph; Chan, Chi Chao; Nakaya, Naoki; Ma, Zhiwei; Ma, Yuanyuan; Cai, Xiaoying; Zhang, Longhua; Lin, Siying; Hameed, Abdul; Chioza, Barry A.; Hardy, Holly; Arno, Gavin; Hull, Sarah; Khan, Muhammad Imran; Fasham, James; Harlalka, Gaurav V.; Michaelides, Michel; Moore, Anthony T.; Akdemir, Zeynep H. Coban; Jhangiani, Shalini N.; Lupski, James R.; Cremers, Frans P.M.; Qamar, Raheel; Salman, Ahmed; Chilton, John K.; Self, James; Ayyagari, Radha; Kabir, Firoz; Naeem, Muhammad Asif; Ali, Muhammad; Akram, Javed; Sieving, Paul A.; Baple, Emma L.; Riazuddin, Sheikh; Crosby, Andrew H.; Hejtmancik, J. Fielding

doi:10.1371/journal.pgen.1007504

Cited by 33 publications

(63 citation statements)

References 43 publications

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“…Mouse models bearing mutations affecting BSG, a protein that has a role in targeting monocarboxylate transporters such as SLC16A1 to the plasma membrane, or REEP6, which mediates trafficking of clathrin-coated vesicles from the ER to the plasma membrane at outer plexiform layer sites enriched for synaptic ribbon protein STX3, also fall in this latter late onset/severe category [333,334]. Asic3, an acid sensing Na + channel, Clcc1, an intracellular chloride channel, and Slc7a14, an intracellular arginine transporter, all cause moderately slow degeneration when mutated [331,335,336]. Slowly progressive PR cell loss is also caused by mutation of Mfsd2a, which encodes a sodium-dependent lipid transporter responsible for maintaining a high DHA concentration in the retina is important for OS homeostasis, as discussed in Category 03 [337].…”

Section: Category 06: Channels and Transportersmentioning

confidence: 99%

Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss

Collin

Gogna

Chang

et al. 2020

Cells

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Inherited retinal degeneration (RD) leads to the impairment or loss of vision in millions of individuals worldwide, most frequently due to the loss of photoreceptor (PR) cells. Animal models, particularly the laboratory mouse, have been used to understand the pathogenic mechanisms that underlie PR cell loss and to explore therapies that may prevent, delay, or reverse RD. Here, we reviewed entries in the Mouse Genome Informatics and PubMed databases to compile a comprehensive list of monogenic mouse models in which PR cell loss is demonstrated. The progression of PR cell loss with postnatal age was documented in mutant alleles of genes grouped by biological function. As anticipated, a wide range in the onset and rate of cell loss was observed among the reported models. The analysis underscored relationships between RD genes and ciliary function, transcription-coupled DNA damage repair, and cellular chloride homeostasis. Comparing the mouse gene list to human RD genes identified in the RetNet database revealed that mouse models are available for 40% of the known human diseases, suggesting opportunities for future research. This work may provide insight into the molecular players and pathways through which PR degenerative disease occurs and may be useful for planning translational studies.

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Section: Category 06: Channels and Transportersmentioning

confidence: 99%

Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss

Collin

Gogna

Chang

et al. 2020

Cells

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“…It is clinically and genetically heterogeneous. About 100 causative genes have been identified and novel causative genes and mutations are now being reported annually 3 – 5 .…”

Section: Introductionmentioning

confidence: 99%

EYS is a major gene involved in retinitis pigmentosa in Japan: genetic landscapes revealed by stepwise genetic screening

Numa

Oishi

Higasa

et al. 2020

Sci Rep

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Next-generation sequencing (NGS) has greatly advanced the studies of causative genes and variants of inherited diseases. While it is sometimes challenging to determine the pathogenicity of identified variants in NGS, the American College of Medical Genetics and Genomics established the guidelines to help the interpretation. However, as to the genetic screenings for patients with retinitis pigmentosa (RP) in Japan, none of the previous studies utilized the guidelines. Considering that EYS is the major causative gene of RP in Japan, we conducted stepwise genetic screening of 220 Japanese patients with RP utilizing the guidelines. Step 1–4 comprised the following, in order: Sanger sequencing for two major EYS founder mutations; targeted sequencing of all coding regions of EYS; whole genome sequencing; Sanger sequencing for Alu element insertion in RP1, a recently determined founder mutation for RP. Among the detected variants, 2, 19, 173, and 1 variant(s) were considered pathogenic and 8, 41, 44, and 5 patients were genetically solved in step 1, 2, 3, and 4, respectively. Totally, 44.5% (98/220) of the patients were genetically solved, and 50 (51.0%) were EYS-associated and 5 (5.1%) were Alu element-associated. Among the unsolved 122 patients, 22 had at least one possible pathogenic variant.

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“…Of note, similar dosage models have been proposed for CLCC1 in autosomal recessive retinitis pigmentosa (arRP) and PMP22 mutations that cause hereditary neuropathy with liability to pressure palsies‐like neuropathy. For CLCC1 , decreased endoplasmic reticulum membrane levels of CLCC1 might be sufficient for most tissues but insufficient in the developmentally higher‐demanding tissues like the retina (Li et al, ). For myelin proper development and function is dependent upon PMP22 gene dosage alterations of which could lead to different neuropathy phenotypes (Shy et al, ).…”

Section: Discussionmentioning

confidence: 99%

TBX6 missense variants expand the mutational spectrum in a non‐Mendelian inheritance disease

et al. 2019

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Congenital scoliosis (CS) is a birth defect with variable clinical and anatomical manifestations due to spinal malformation. The genetic etiology underlying about 10% of CS cases in the Chinese population is compound inheritance by which the gene dosage is reduced below that of haploinsufficiency. In this genetic model, the trait manifests as a result of the combined effect of a rare variant and common pathogenic variant allele at a locus. From exome sequencing (ES) data of 523 patients

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Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa

Cited by 33 publications

References 43 publications

Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss

Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss

EYS is a major gene involved in retinitis pigmentosa in Japan: genetic landscapes revealed by stepwise genetic screening

TBX6 missense variants expand the mutational spectrum in a non‐Mendelian inheritance disease

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