We report for the first time a novel missense variant in NHLRC2. We extend the NHLRC2 gene associated neuropsychological and neuroimaging phenotype, and propose that the NHLRC2 gene should be considered in patients with symptoms of atypical Rett syndrome. We also summarise currently available literature on neuropsychological symptoms in children with FINCA who survived into late childhood.
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.
© 2022 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.