Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancy.
Alleles
Angiomatosis
/ diagnosis
Biopsy
Facies
Female
Fibrosis
/ diagnosis
Genetic Predisposition to Disease
Genotype
Humans
Immunohistochemistry
Infant
Infant, Newborn
Intracellular Signaling Peptides and Proteins
/ genetics
Male
Neurodegenerative Diseases
/ diagnosis
Phenotype
Radiography
Syndrome
Tomography, X-Ray Computed
FINCA
NHLRC2
cerebropulmonary disease
childhood interstitial lung disease
cholesterol pneumonia
lipoid pneumonitis
lung fibrosis
multi-organ disease
Journal
Clinical genetics
ISSN: 1399-0004
Titre abrégé: Clin Genet
Pays: Denmark
ID NLM: 0253664
Informations de publication
Date de publication:
10 2021
10 2021
Historique:
revised:
11
06
2021
received:
25
03
2021
accepted:
21
06
2021
pubmed:
25
6
2021
medline:
1
2
2022
entrez:
24
6
2021
Statut:
ppublish
Résumé
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 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.
Substances chimiques
Intracellular Signaling Peptides and Proteins
0
NHLRC2 protein, human
0
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
453-461Subventions
Organisme : Bundesministerium für Bildung und Forschung
ID : project "HCQ4Surfdefect" under E-Rare-3
Organisme : chILD-EU
ID : FP7 305653
Organisme : Deutsche Forschungsgemeinschaft
ID : 418081722
Organisme : Deutsche Forschungsgemeinschaft
ID : 433158657
Organisme : Deutsche Forschungsgemeinschaft
ID : Gr 970/9-1
Organisme : Deutscher Akademischer Austauschdienst
ID : German-Arab Transformation Program ID 57166498
Informations de copyright
© 2021 The Authors. Clinical Genetics published by John Wiley & Sons Ltd.
Références
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