A Novel Mutation c.841C&gt;T in COPA Syndrome of an 11-Year-Old Boy: A Case Report and Short Literature Review

Zeng, Jingxia; Hao, Jing; Zhou, Wei; Zhou, Ziwu; Miao, Hongjun

doi:10.3389/fped.2021.773112

Cited by 8 publications

(6 citation statements)

References 20 publications

(37 reference statements)

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“…Strains TA-R-1 T and BL-R-1 T contain yidC , which is involved in various cellular functions such as protein folding, membrane integrity, signaling, molecule transport, energy metabolism, and possibly antibiotic resistance. Moreover, vitamin biosynthesis genes, including copA , cop Z, copZA , and csoR detected in BL-R-1 T , may facilitate the reverse transport of vesicular proteins to the endoplasmic reticulum ( Zeng et al, 2021 ).…”

Section: Discussionmentioning

confidence: 99%

Genome insight and probiotic potential of three novel species of the genus Corynebacterium

et al. 2023

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Three bacterial strains, B5-R-101T, TA-R-1T, and BL-R-1T, were isolated from the feces of a healthy Korean individual. Cells of these strains were Gram-stain-positive, facultatively anaerobic, oxidase-negative, catalase-positive, rod-shaped, and non-motile. They were able to grow within a temperature range of 10–42°C (optimum, 32–37°C), at a pH range of 2.0–10.0 (optimum, pH 5.5–8.0), and at NaCl concentration of 0.5–10.5% (w/v). All the three strains exhibited 2,2-Diphenyl-1-picrylhydrazyl (DPPH) radical scavenging activities ranging from 58 ± 1.62 to 79 ± 1.46% (% inhibition). These strains survived in lower pH (2.0) and in 0.3% bile salt concentration for 4 h. They did not show hemolytic activity and exhibited antimicrobial activity against pathogenic bacteria, such as Escherichia coli, Acinetobacter baumannii, Staphylococcus aureus, and Salmonella enterica. The genomic analysis presented no significant concerns regarding antibiotic resistance or virulence gene content, indicating these strains could be potential probiotic candidates. Phylogenetic analysis showed that they belonged to the genus Corynebacterium, with 98.5–99.0% 16S rRNA gene sequence similarities to other members of the genus. Their major polar lipids were diphosphatidylglycerol and phosphatidylglycerol. The abundant cellular fatty acids were C16:0, C18:1ω9c, and anteiso-C19:0. Genomic analysis of these isolates revealed the presence of genes necessary for their survival and growth in the gut environment, such as multi-subunit ATPases, stress response genes, extracellular polymeric substance biosynthesis genes, and antibacterial genes. Furthermore, the genome of each strain possessed biosynthetic gene clusters with antioxidant and antimicrobial potentials, including terpenes, saccharides, polyketides, post-translationally modified peptides (RIPPs), and non-ribosomal peptides (NRPs). In silico DNA–DNA hybridization (dDDH) and average nucleotide identity (ANI) values were lower than the thresholds to distinguish novel species. Based on phenotypic, genomic, phylogenomic, and phylogenetic analysis, these potential probiotic strains represent novel species within the genus Corynebacterium, for which the names Corynebacterium intestinale sp. nov. (type strain B5-R-101T = CGMCC 1.19408T = KCTC 49761T), Corynebacterium stercoris sp. nov. (type strain TA-R-1T = CGMCC 1.60014T = KCTC 49742T), and Corynebacterium faecium sp. nov. (type strain BL-R-1T = KCTC 49735T = TBRC 17331T) are proposed.

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Section: Discussionmentioning

confidence: 99%

Genome insight and probiotic potential of three novel species of the genus Corynebacterium

et al. 2023

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“…COPA gene is located on chromosome1q23.2 and including 33 exons (54 kb). To date, most of the pathogenic COPA variants identified in patients with autoinflammatory diseases compatible with COPA syndrome are located in the 14 amino acid region and the WD40 domain with important functions, except for 4 mutations, that is c.433C > T (p.P145S) ( 3 ), c.596A > G (p.H199R) ( 4 ), c.841C > T (p.R281W) ( 5 ) and c.855G > C (p.Q285H) ( 6 ). The genetic testing of this patient revealed a variant of c.715G > C (p.A239P), located within the WD40 domain, which has been previously reported by Pamela Psarianos ( 7 ).…”

Section: Discussionmentioning

confidence: 99%

Case report: COPA syndrome with interstitial lung disease, skin involvement, and neuromyelitis spectrum disorder

Tao

Zhang

et al. 2023

Front. Pediatr.

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This report describes a case of a 22 months Chinese boy with COPA syndrome bearing the c.715G > C (p.A239P) genotype. In addition to interstitial lung diseae, he also suffered from recurrent chilblain-like rashes, which has not been previously reported, and neuromyelitis optica spectrum disorder (NMOSD), which is a very rare phenotype. Clinical manifestations expanded the phenotype of COPA syndrome. Notably, there is no definitive treatment for COPA syndrome. In this report, the patient has achieved short-term clinical improvement with sirolimus.

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“…To date, 14 missense substitutions associated with COPA syndrome have been reported, including p.Pro145Ser (He et al., 2018), p.Lys230Asn, p.Arg233His, p.Ala239Pro (Watkin et al., 2015), Trp240Arg, Trp240Ser, Trp240Leu, p.Glu241Lys, p.Glu241Ala (Taveira‐DaSilva et al., 2019), p.Val242Ala (Lin et al., 2020), p.Val242Gly (Kato et al., 2021), p.Asp243Asn, p.Asp243Gly, and p.Arg281Trp (Zeng et al., 2021). All these mutations are located in exon 6/8/9 of chromosome‐1.…”

Section: Discussionmentioning

confidence: 99%

COPA syndrome caused by a novel p.Arg227Cys COPA gene variant

Zheng,

Du,

et al. 2023

Molec Gen & Gen Med

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BackgroundCOPA syndrome is a recently described and rare monogenic autosomal dominant disease caused by heterozygous missense mutations in the Coatomer Protein Subunit alpha (COPA) gene that encodes the alpha subunit of coat protein complex I (COPI). Its main clinical manifestations are inflammatory lung disease, arthritis, and renal disease. The development of inflammation in COPA syndrome maybe due to abnormal autophagic response and abnormal activation of type I interferon pathway. To date, 59 cases of COPA have been reported worldwide.MethodsIn this case, Trio‐whole exome sequencing was employed in the proband and her parents to identify the underlying genetic cause. COPA variant were detected and the clinical presentation of the patient was described.ResultsHerein, we report a case of a 5‐year‐old girl with COPA syndrome who presented with symptoms of arthritis combined with Anti‐neutrophil Cytoplasmic Antibody (ANCA) associated vasculitis (AAV), and progressive renal decline with minimal pulmonary involvement. Trio‐whole exome sequencing was performed which revealed a novel heterozygous likely pathogenic variation in the COPA gene (c.679C>T,p.Arg227Cys), which was maternally inherited. Her mother was a heterozygote, but she had no phenotypic manifestations. No other mutations associated with the clinical phenotype were identified.ConclusionThe present identification and characterization of a novel mutation expands the genotypic spectra of the COPA syndrome and provide reference data to guide future clinical diagnosis and treatment of COPA syndrome.

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A Novel Mutation c.841C>T in COPA Syndrome of an 11-Year-Old Boy: A Case Report and Short Literature Review

Cited by 8 publications

References 20 publications

Genome insight and probiotic potential of three novel species of the genus Corynebacterium

Genome insight and probiotic potential of three novel species of the genus Corynebacterium

Case report: COPA syndrome with interstitial lung disease, skin involvement, and neuromyelitis spectrum disorder

COPA syndrome caused by a novel p.Arg227Cys COPA gene variant

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