Open AccessFINCA syndrome—Defining neurobehavioral phenotype in survivors into late childhood
Author(s) -
BaduraStronka Magdalena,
Śmigiel Robert,
Rutkowska Karolina,
Szymańska Krystyna,
Hirschfeld Adam Sebastian,
Monkiewicz Michał,
Kosińska Joanna,
Wolańska Ewelina,
Rydzanicz Małgorzata,
LatosBieleńska Anna,
Płoski Rafał
Publication year - 2022
Publication title -
molecular genetics and genomic medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.765
H-Index - 29
ISSN - 2324-9269
DOI - 10.1002/mgg3.1899
Subject(s) - phenotype , neuropsychology , medicine , neurodegeneration , neuroimaging , pediatrics , bioinformatics , pathology , disease , gene , genetics , biology , psychiatry , cognition
Background By 2021, 10 cases of fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA, MIM #618278) syndrome have been reported, and five causative variants in the NHLRC2 gene (*618277) have been identified. First reported patients presented with recurrent respiratory distress, leading to death before the age of 3. In the recent publication by Rapp, Van Dijck, and Laugwitz et al., six more patients were described. The authors underlined the possibility of survival beyond infancy and neurodevelopmental delay occurrence. Methods Our goal is to characterize further neurobehavioral phenotype of patients with the NHLRC2 gene variants. Therefore, we describe three previously unreported patients with FINCA's clinical features who survived into late childhood and reviewed the neurobehavioral phenotype of all known cases. Results We identify the so far unfamiliar neurological features of FINCA syndrome and a novel variant in the NHLRC2: c.977G>T, p.(G326V) detected in one of the patients.