{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["14"],"submitter":["Gouy B"],"pubmed_abstract":["Acute necrotizing encephalopathy 1 (ANE1) is a very rare disorder associated with a dominant heterozygous mutation in the <i>RANBP2</i> (RAN binding protein 2) gene. ANE1 is frequently triggered by a febrile infection and characterized by serious and irreversible neurological damage. Although only a few hundred cases have been reported, mutations in <i>RANBP2</i> are only partially penetrant and can occur <i>de novo</i>, suggesting that their frequency may be higher in some populations. Genetic diagnosis is a lengthy process, potentially delaying definitive diagnosis. We therefore developed a rapid bedside qPCR-based tool for early diagnosis and screening of ANE1 mutations. Primers were designed to specifically assess <i>RANBP2</i> and not <i>RGPD</i> (RANBP2 and GCC2 protein domains) and discriminate between wild-type or mutant <i>RANBP2</i>. Nasal epithelial cells were obtained from two individuals with known <i>RANBP2</i> mutations and two healthy control individuals. <i>RANBP2</i>-specific reverse transcription followed by allele-specific primer qPCR amplification confirmed the specific detection of heterozygously expressed mutant <i>RANBP2</i> in the ANE1 samples. This study demonstrates that allele-specific qPCR can be used as a rapid and inexpensive diagnostic tool for ANE1 using preexisting equipment at local hospitals. It can also be used to screen non-hospitalized family members and at risk-population to better establish the frequency of non-ANE-associated <i>RANBP2</i> mutations, as well as possible tissue-dependent expression patterns.<h4>Systematic review registration</h4>The protocol was registered in the international prospective register of systematic reviews (PROSPERO- CRD42023443257)."],"journal":["Frontiers in neurology"],"pagination":["1282059"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10690583"],"repository":["biostudies-literature"],"pubmed_title":["Rapid and inexpensive bedside diagnosis of RAN binding protein 2-associated acute necrotizing encephalopathy."],"pmcid":["PMC10690583"],"pubmed_authors":["Desgraupes S","Gouy B","Ouyang H","Nisole S","Arhel NJ","Wang YE","Palazzo AF","Duan W","Yeh EA","Decorsiere A","Moraes TJ"],"additional_accession":[]},"is_claimable":false,"name":"Rapid and inexpensive bedside diagnosis of RAN binding protein 2-associated acute necrotizing encephalopathy.","description":"Acute necrotizing encephalopathy 1 (ANE1) is a very rare disorder associated with a dominant heterozygous mutation in the <i>RANBP2</i> (RAN binding protein 2) gene. ANE1 is frequently triggered by a febrile infection and characterized by serious and irreversible neurological damage. Although only a few hundred cases have been reported, mutations in <i>RANBP2</i> are only partially penetrant and can occur <i>de novo</i>, suggesting that their frequency may be higher in some populations. Genetic diagnosis is a lengthy process, potentially delaying definitive diagnosis. We therefore developed a rapid bedside qPCR-based tool for early diagnosis and screening of ANE1 mutations. Primers were designed to specifically assess <i>RANBP2</i> and not <i>RGPD</i> (RANBP2 and GCC2 protein domains) and discriminate between wild-type or mutant <i>RANBP2</i>. Nasal epithelial cells were obtained from two individuals with known <i>RANBP2</i> mutations and two healthy control individuals. <i>RANBP2</i>-specific reverse transcription followed by allele-specific primer qPCR amplification confirmed the specific detection of heterozygously expressed mutant <i>RANBP2</i> in the ANE1 samples. This study demonstrates that allele-specific qPCR can be used as a rapid and inexpensive diagnostic tool for ANE1 using preexisting equipment at local hospitals. It can also be used to screen non-hospitalized family members and at risk-population to better establish the frequency of non-ANE-associated <i>RANBP2</i> mutations, as well as possible tissue-dependent expression patterns.<h4>Systematic review registration</h4>The protocol was registered in the international prospective register of systematic reviews (PROSPERO- CRD42023443257).","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023","modification":"2025-04-25T17:33:14.771Z","creation":"2025-04-06T04:05:20.953Z"},"accession":"S-EPMC10690583","cross_references":{"pubmed":["38046586"],"doi":["10.3389/fneur.2023.1282059"]}}