Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancy
Zitieren Sie bitte immer diese URN: urn:nbn:de:bvb:20-opus-262732
- Fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA, MIM#618278) is a rare clinical condition caused by bi‐allelic variants in NHL repeat containing protein 2 (NHLRC2, MIM*618277). Pulmonary disease may be the presenting sign and the few patients reported so far, all deceased in early infancy. Exome sequencing was performed on patients with childhood interstitial lung disease (chILD) and additional neurological features. The chILD‐EU register database and an in‐house database were searched for patients with NHLRC2 variants andFibrosis, neurodegeneration, and cerebral angiomatosis (FINCA, MIM#618278) is a rare clinical condition caused by bi‐allelic variants in NHL repeat containing protein 2 (NHLRC2, MIM*618277). Pulmonary disease may be the presenting sign and the few patients reported so far, all deceased in early infancy. Exome sequencing was performed on patients with childhood interstitial lung disease (chILD) and additional neurological features. The chILD‐EU register database and an in‐house database were searched for patients with NHLRC2 variants and clinical features overlapping FINCA syndrome. Six patients from three families were identified with bi‐allelic variants in NHLRC2. Two of these children died before the age of two while four others survived until childhood. Interstitial lung disease was pronounced in almost all patients during infancy and stabilized over the course of the disease with neurodevelopmental delay (NDD) evolving as the key clinical finding. We expand the phenotype of FINCA syndrome to a multisystem disorder with variable severity. FINCA syndrome should also be considered in patients beyond infancy with NDD and a history of distinct interstitial lung disease. Managing patients in registers for rare diseases helps identifying new diagnostic entities and advancing care for these patients.…
Autor(en): | Christina K. Rapp, Ine Van Dijck, Lucia Laugwitz, Mieke Boon, George Briassoulis, Stavroula Ilia, Birgit Kammer, Simone Reu, Stefanie Hornung, Rebecca Buchert, Linda Sofan, Tawfiq Froukh, Peter Witters, Daisy Rymen, Tobias B. Haack, Marijke Proesmans, Matthias Griese |
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URN: | urn:nbn:de:bvb:20-opus-262732 |
Dokumentart: | Artikel / Aufsatz in einer Zeitschrift |
Institute der Universität: | Medizinische Fakultät / Pathologisches Institut |
Sprache der Veröffentlichung: | Englisch |
Titel des übergeordneten Werkes / der Zeitschrift (Englisch): | Clinical Genetics |
Erscheinungsjahr: | 2021 |
Band / Jahrgang: | 100 |
Heft / Ausgabe: | 4 |
Erste Seite: | 453 |
Letzte Seite: | 461 |
Originalveröffentlichung / Quelle: | Clinical Genetics 2021, 100(4):453-461. DOI: 10.1111/cge.14016 |
DOI: | https://doi.org/10.1111/cge.14016 |
Allgemeine fachliche Zuordnung (DDC-Klassifikation): | 6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit |
Freie Schlagwort(e): | FINCA; NHLRC2; cerebropulmonary disease; childhood interstitial lung disease; cholesterol pneumonia; lipoid pneumonitis; lung fibrosis; multi‐organ disease |
Datum der Freischaltung: | 08.12.2022 |
EU-Projektnummer / Contract (GA) number: | 305653 |
OpenAIRE: | OpenAIRE |
Lizenz (Deutsch): | CC BY-NC: Creative-Commons-Lizenz: Namensnennung, Nicht kommerziell 4.0 International |