Filamin A (FLNA) gene mutation-associated disease: results of a multicenter study

Introduction. Pathogenic variants of the FLNA gene cause damage to various organs and systems formed in the embryonic period. The most frequently affected organs are the brain (epilepsy), cardiovascular system (congenital heart defects, pulmonary hypertension — PH), and lungs (emphysema). The aim of the study: genetic, clinical, laboratory, and instrumental characteristics of patients with a disease caused by pathogenic variants of the FLNA gene. Materials and methods. Six girls with identified pathogenic variants of the FLNA gene were observed. The methods used: genealogical, whole exome sequencing, Sanger sequencing, electroencephalography, brain MRI, echocardiography, right heart catheterization with determination of pressure and resistance in the pulmonary circulation and pulmonary capillary wedge pressure, CT of the chest organs. Results. The article presents the results of a molecular genetic study of the FLNA gene. All patients were diagnosed with periventricular nodular heterotopia and psychomotor retardation, 2 of them had epilepsy; 4 children had heart valve dysplasia; 3 had patent ductus arteriosus, 3 had septal defects, 2 had bicuspid aortic valve, 5 had pulmonary hypertension; 5 had pulmonary emphysema; 1 had congenital diaphragmatic hernia. Two patients died during the observation period. Conclusion. Diagnosis and observation of patients with pathogenic variants of the FLNA gene is a challenge for a multidisciplinary team of doctors at a multidisciplinary pediatric hospital. The presented cohort of 6 patients reflects the most typical manifestations of this pathology, the severity and rate of development of disease in infants.

Authors

Institutions

Publication Details

Journal
L O Badalyan Neurological Journal
Published
2025-08-20
DOI
https://doi.org/10.46563/2686-8997-2025-6-2-72-84
Primary Topic
Genetics and Neurodevelopmental Disorders
Type
article
Field-Weighted Citation Impact
0.00
Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

Filamin A (FLNA) gene mutation-associated disease: results of a multicenter study

И. А. Ковалев, A.V. Gorbunov, N.P. Kotlukova, M.A. Abramyan et al.
1 links
L O Badalyan Neurological Journal
Genetics and Neurodevelopmental Disorders
article

Filamin A (FLNA) gene mutation-associated disease: results of a multicenter study

И. А. Ковалев, A.V. Gorbunov, N.P. Kotlukova, M.A. Abramyan, А. А. Пушков, Svetlana I. Petrova, N.D. Telezhnikova, О. И. Симонова, А. А. Кузнецова, E.V. Boitsova, Kirill V. Savostyanov, И. М. Миклашевич, A.V. Ivanova, Shamil A. Gitinov, V.A. Strelnikova, Olga B. Kondakova, Л. М. Кузенкова, В.В. Горев, И.И. Трунина, Victoriya A. Aysina, Oksana A. Suetina, Anastasiya A. Lyalina, N. E. Kravchenko, V.P. Miroshnichenko, Natalia M. Solomatina, D.Yu. Ovsyannikov, Olga V. Gneusheva
article en

Abstract

Introduction. Pathogenic variants of the FLNA gene cause damage to various organs and systems formed in the embryonic period. The most frequently affected organs are the brain (epilepsy), cardiovascular system (congenital heart defects, pulmonary hypertension — PH), and lungs (emphysema). The aim of the study: genetic, clinical, laboratory, and instrumental characteristics of patients with a disease caused by pathogenic variants of the FLNA gene. Materials and methods. Six girls with identified pathogenic variants of the FLNA gene were observed. The methods used: genealogical, whole exome sequencing, Sanger sequencing, electroencephalography, brain MRI, echocardiography, right heart catheterization with determination of pressure and resistance in the pulmonary circulation and pulmonary capillary wedge pressure, CT of the chest organs. Results. The article presents the results of a molecular genetic study of the FLNA gene. All patients were diagnosed with periventricular nodular heterotopia and psychomotor retardation, 2 of them had epilepsy; 4 children had heart valve dysplasia; 3 had patent ductus arteriosus, 3 had septal defects, 2 had bicuspid aortic valve, 5 had pulmonary hypertension; 5 had pulmonary emphysema; 1 had congenital diaphragmatic hernia. Two patients died during the observation period. Conclusion. Diagnosis and observation of patients with pathogenic variants of the FLNA gene is a challenge for a multidisciplinary team of doctors at a multidisciplinary pediatric hospital. The presented cohort of 6 patients reflects the most typical manifestations of this pathology, the severity and rate of development of disease in infants.

L O Badalyan Neurological JournalVol. 6(2)
Peoples' Friendship University of Russia (RU), Pirogov Russian National Research Medical University (RU), Center for Children (US), Russian Children's Clinical Hospital (RU), City Clinical Hospital (RU), Regional Children's Clinical Hospital No. 1 (RU), Saint Petersburg State Pediatric Medical University (RU)
Openalex Percentile: Top 76%
Genetics and Neurodevelopmental Disorders
DOIOpen Access PDFOpenAlex
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.