Dataset Information

Identification of a novel nonsense ATP2A2 gene variant in a patient with Darier's disease flare following COVID-19 infection: A case report.

ABSTRACT:

Rationale

Darier disease (DD) is a rare autosomal dominant disorder that primarily manifests as hyperkeratotic papules and itching. The underlying etiology of DD is pathogenic variation in the ATP2A2 gene. However, this disease has a high penetrance but variable expressivity, indicating that patients inheriting the genotype may have different manifestations due to exogenous factors. Meanwhile, a few reports have documented that COVID-19 may be implicated in the flare of DD.

Patient concerns

A 51-year-old man presented with keratotic papules and scaly erythematous rash on his trunk with pruritus after being infected with COVID-19. Laboratory test results were normal. Histological analysis revealed epidermal hyperkeratosis and intraepidermal lacunae containing dyskeratinized cells. Genetic analysis revealed a novel variant of ATP2A2 (c.815G>A, p.Trp272*), which was considered pathogenic in this case.

Diagnoses

The patient was diagnosed as having DD.

Interventions

Oral acitretin and topical corticosteroid hormone ointments were used.

Outcomes

The patient achieved complete resolution of symptoms during the 3-month follow-up period.

Lessons

We revealed the first novel ATP2A2 variant (c.815G>A, p.Trp272*) in the flare of DD following COVID-19 infection. Additionally, this pathogenic variant enriches the ATP2A2 gene mutation spectrum.

SUBMITTER: Liu L

PROVIDER: S-EPMC10906587 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature

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Publications

Identification of a novel nonsense ATP2A2 gene variant in a patient with Darier's disease flare following COVID-19 infection: A case report.

Liu Linli L Zheng Xiaotao X Lu Qinglian Q Yu Chunshui C

Medicine 20240301 9

<h4>Rationale</h4>Darier disease (DD) is a rare autosomal dominant disorder that primarily manifests as hyperkeratotic papules and itching. The underlying etiology of DD is pathogenic variation in the ATP2A2 gene. However, this disease has a high penetrance but variable expressivity, indicating that patients inheriting the genotype may have different manifestations due to exogenous factors. Meanwhile, a few reports have documented that COVID-19 may be implicated in the flare of DD.<h4>Patient co ...[more]

PMID: 38428853

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Project description:IntroductionMycobacterium europaeum, a slow-growing nontuberculous mycobacteria belonging to the Mycobacterium simiae complex, was described after the seminal characterization of five isolates collected from three sputum specimens and a jaw gland biopsy in Italy, Greece and Sweden. Five respiratory tract isolates were further reported in Iran. Here, we report the first isolation of M. europaeum in France, in the respiratory tract of a patient co-infected with human immunodeficiency virus and hepatitis C virus.Case presentationA 49-year-old Caucasian woman with a 26-year history of human immunodeficiency virus-hepatitis C virus co-infection was admitted for significant influenza-like syndrome in a context of repetitive exacerbations of chronic obstructive pulmonary disease. Significant biological parameters included lymphocytes of 1.6G/L including 237/mm3 T4 lymphocytes, a human immunodeficiency virus viral load of 1.6 log and a hepatitis C virus viral load of 6 log. Reverse-transcriptase polymerase chain reaction of her nasopharyngeal aspiration confirmed influenza A H1N1. Three sputum specimens lacked acid-fast bacilli but one grew mycobacteria identified by using matrix-assisted laser desorption ionization/time-of-flight mass spectrometry as M. europaeum with a 1.56 log score. A 1,482-bp 16S ribosomal ribonucleic acid gene sequence yielded 99% similarity with both Mycobacterium parascrofulaceum ATCC BAA-614 and M. europaeum DSM 45397T and partial rpoB polymerase chain reaction-sequencing yielded a 725-bp sequence exhibiting 100% similarity with M. europaeum strain DSM 45397T.ConclusionsWe report the first isolation of M. europaeum in France, in the respiratory tract of a patient co-infected with human immunodeficiency virus and hepatitis C virus. M. europaeum warrants further attention in immunosuppressed patients with influenza, using matrix-assisted laser desorption ionization/time-of-flight mass spectrometry and rpoB partial sequencing as tools for its accurate identification.

Project description:BackgroundMarfan syndrome (MFS) is a common autosomal dominant inherited disease, and the occurrence rate is around 0.1-0.2‰. The causative variant of FNB1 gene accounts for approximately 70-80% of all MFS cases. In this study, we found a heterozygous c.3217G > T (p.Glu1073*) nonsense variant in the FBN1 gene. This finding extended the variant spectrum of the FBN1 gene and will provide a solution for patients to bear healthy offspring by preimplantation genetic testing or prenatal diagnosis.Case presentationThe patient was treated due to tachycardia during excitement in a hospital. Echocardiography showed dilatation of the ascending aorta and main pulmonary artery, mitral regurgitation (mild), tricuspid regurgitation (mild), and abnormal left ventricular filling. Electrocardiograph showed sinus rhythm. In addition, flutters of shadows in front of his eyes and vitreous opacity were present in the patient. Genomic DNA was extracted from peripheral blood samples from members of the family and 100 unrelated controls. Potential variants were screened out by next-generation sequencing and confirmed by MLPA & Sanger sequencing. Real-time fluorescence quantitative PCR (RT-qPCR) was performed to detect the relative mRNA quantitation in the patient. A heterozygous nonsense variant c.3217G > T of the FBN1 gene, which resulted in p. Glu1073Term, was identified in both patients. Only wild type bases were found in the cDNA sequence of the patient. Real-time fluorogenic quantitative PCR results showed that the relative expression level of FBN1 cDNA in the patient was only about 21% compared to that of normal individuals. This variant c.3217G > T of the FBN1 gene introduces a Stop codon in the cb-EGF12 domain. We speculated that a premature translational-termination codon (PTC) was located in the mRNA and the target mRNA was disintegrated through a process known as nonsense-mediated mRNA decay (NMD), which led to a significant decrease of the fibrillin-1 protein, eventually causing clinical symptoms in the patient.ConclusionsIn this study, we found a heterozygous c.3217G > T (p.Glu1073*) nonsense variant in the FBN1 gene, which eventually led to Marfan syndrome in a Chinese family.

Dataset Information

Identification of a novel nonsense ATP2A2 gene variant in a patient with Darier's disease flare following COVID-19 infection: A case report.

Rationale

Patient concerns

Diagnoses

Interventions

Outcomes

Lessons

Publications

Identification of a novel nonsense ATP2A2 gene variant in a patient with Darier's disease flare following COVID-19 infection: A case report.

Similar Datasets

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