Neurodevelopmental disorder associated with IRF2BPL gene mutation: Expanding the phenotype?

Škorvánek, Matej; Dušek, Petr; Rydzanicz, Małgorzata; Walczak, Anna; Kosińska, Joanna; Kostrzewa, Grażyna; Brzozowska, Małgorzata; Han, Vladimir; Došekova, Petra; Gdovinová, Zuzana; Lehotska, Zdenka; Lisowski, Paweł; Płoski, Rafał

doi:10.1016/j.parkreldis.2019.01.017

Cited by 25 publications

(33 citation statements)

References 4 publications

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“…The remaining patients were still living. At the time of publication of the case reports (Macrogliese et al, ; Skorvanek et al, ; Tran Mau‐Them et al, ), the median age of patients was 10.5 years with a range of 17 months to 48 years.…”

Section: Resultsmentioning

confidence: 99%

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IRF2BPL gene mutation: Expanding on neurologic phenotypes

Shelkowitz

Singh

Larson

et al. 2019

American J of Med Genetics Pt A

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Heterozygous loss of function variants in the IRF2BPL are a newly described cause of neurodevelopmental disabilities and epilepsy. As of 2019, fewer than 20 patients have been described in the published literature. This article reports an additional case of a patient with a pathogenic IRF2BPL variant and offers a comprehensive review of the published cases of individuals with IRF2BPL variants, in order to help expand the phenotype. The patient has a history of infantile spasms evolving into drug-resistant epilepsy with underlying epileptic encephalopathy consistent with Lennox-Gastaut syndrome. While at the extreme end of the spectrum, his phenotype is consistent with those previously described. Our literature review highlights the wide range of phenotypes exhibited by those with diseases related to IRF2BPL gene variants. This article also briefly discusses other comorbidities seen in the patient and those previously reported. While the molecular underpinnings of the role of IRF2BPL gene in the central nervous system are newly established, the specifics of its effects elsewhere have yet to be delineated. Furthermore, its pathogenesis in other organ systems is not yet understood and could be of importance from a management perspective. K E Y W O R D Sdevelopmental regression, epilepsy, intellectual disability, IRF2BPL gene mutation

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Section: Resultsmentioning

confidence: 99%

“…The first clinical descriptions of individuals with IRF2BPL variants were published in 2018. While the phenotype is varied, it has been associated with developmental regression in childhood as well as epilepsy (Macrogliese et al, ; Skorvanek et al, ; Tran Mau‐Them et al, ).…”

Section: Introductionmentioning

confidence: 99%

IRF2BPL gene mutation: Expanding on neurologic phenotypes

Shelkowitz

Singh

Larson

et al. 2019

American J of Med Genetics Pt A

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“…Common clinical features in IRF2BPL mutation carriers include a variety of neurological symptoms from dystonia, ataxia, spasticity, dysarthria/anarthria, dysphagia and epilepsy to neurodevelopmental delay or regression [1][2][3][4]. We also wish to highlight the association of IRF2BPL mutations with keratoconus.…”

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confidence: 99%

IRF2BPL mutation causes nigrostriatal degeneration presenting with dystonia, spasticity and keratoconus

Prilop

Buchert

Woerz

et al. 2020

Parkinsonism & Related Disorders

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“…of the neurological spectrum, including complex movement disorder with iron deposits in the deep gray matter nuclei (Skorvanek et al, 2019) and developmental epileptic encephalopathy (DEE) with regression during childhood, often concomitant with seizure onset (Tran Mau-Them et al, 2019). The gene product is a zinc finger/RING finger protein acting as a transcriptional modulator (Marcogliese et al, 2018).…”

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confidence: 99%

IRF2BPL gene variants: One new case

Spagnoli

Rizzi

Salerno

et al. 2019

American J of Med Genetics Pt A

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To the Editor, Since the first association of pathogenic variants in IRF2BPL (interferon regulatory factor 2 binding protein like) gene with a neurological syndrome in 2018, with the crucial distinction between nonsense (leading to severe neurodevelopmental regression, hypotonia, progressive ataxia, lack of coordination, and epilepsy) and missense variants (with milder phenotype featuring developmental delay and epilepsy) (Marcogliese et al., 2018), there has been further delineation

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Neurodevelopmental disorder associated with IRF2BPL gene mutation: Expanding the phenotype?

Cited by 25 publications

References 4 publications

IRF2BPL gene mutation: Expanding on neurologic phenotypes

IRF2BPL gene mutation: Expanding on neurologic phenotypes

IRF2BPL mutation causes nigrostriatal degeneration presenting with dystonia, spasticity and keratoconus

IRF2BPL gene variants: One new case

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