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FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants

Purpose: The study aimed at widening the clinical and genetic spectrum and assessing genotype-phenotype associations in FOXG1 syndrome due to FOXG1 variants. Methods: We compiled 30 new and 53 reported patients with a heterozygous pathogenic or likely pathogenic variant in FOXG1. We grouped patients...

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Main Authors: Mitter, Diana (Author) , Pringsheim, Milka (Author) , Kaulisch, Marc (Author) , Plümacher, Kim Sarah (Author) , Schröder, Simone (Author) , Warthemann, Rita (Author) , Abou Jamra, Rami (Author) , Baethmann, Martina (Author) , Bast, Thomas (Author) , Büttel, Hans-Martin (Author) , Cohen, Julie S. (Author) , Conover, Elizabeth (Author) , Courage, Carolina (Author) , Eger, Angelika (Author) , Fatemi, Ali (Author) , Grebe, Theresa A. (Author) , Hauser, Natalie S. (Author) , Heinritz, Wolfram (Author) , Helbig, Katherine L. (Author) , Heruth, Marion (Author) , Huhle, Dagmar (Author) , Höft, Karen (Author) , Karch, Stephanie (Author) , Kluger, Gerhard (Author) , Korenke, Christoph (Author) , Lemke, Johannes R. (Author) , Lutz, Richard E. (Author) , Patzer, Steffi (Author) , Prehl, Isabelle (Author) , Hoertnagel, Konstanze (Author) , Ramsey, Keri (Author) , Rating, Tina (Author) , Rieß, Angelika (Author) , Rohena, Luis (Author) , Schimmel, Mareike (Author) , Westman, Rachel (Author) , Zech, Frank-Martin (Author) , Zoll, Barbara (Author) , Malzahn, Dörthe (Author) , Zirn, Birgit (Author) , Brockmann, Knut (Author)
Format: Article (Journal)
Language:English
Published: 2018
In: Genetics in medicine
Year: 2017, Volume: 20, Issue: 1, Pages: 98-108
ISSN:1530-0366
DOI:10.1038/gim.2017.75
Online Access:Resolving-System, kostenfrei, Volltext: https://doi.org/10.1038/gim.2017.75
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Author Notes:Diana Mitter, Milka Pringsheim, Marc Kaulisch, Kim Sarah Plümacher, Simone Schröder, Rita Warthemann, Rami Abou Jamra, Martina Baethmann, Thomas Bast, Hans-Martin Büttel, Julie S Cohen, Elizabeth Conover, Carolina Courage, Angelika Eger, Ali Fatemi, Theresa A Grebe, Natalie S Hauser, Wolfram Heinritz, Katherine L Helbig, Marion Heruth, Dagmar Huhle, Karen Höft, Stephanie Karch, Gerhard Kluger, G Christoph Korenke, Johannes R Lemke, Richard E Lutz, Steffi Patzer, Isabelle Prehl, Konstanze Hoertnagel, Keri Ramsey, Tina Rating, Angelika Rieß, Luis Rohena, Mareike Schimmel, Rachel Westman, Frank-Martin Zech, Barbara Zoll, Dörthe Malzahn, Birgit Zirn, and Knut Brockmann

MARC

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520 |a Purpose: The study aimed at widening the clinical and genetic spectrum and assessing genotype-phenotype associations in FOXG1 syndrome due to FOXG1 variants. Methods: We compiled 30 new and 53 reported patients with a heterozygous pathogenic or likely pathogenic variant in FOXG1. We grouped patients according to type and location of the variant. Statistical analysis of molecular and clinical data was performed using Fisher's exact test and a nonparametric multivariate test. Results: Among the 30 new patients, we identified 19 novel FOXG1 variants. Among the total group of 83 patients, there were 54 variants: 20 frameshift (37%), 17 missense (31%), 15 nonsense (28%), and 2 in-frame variants (4%). Frameshift and nonsense variants are distributed over all FOXG1 protein domains; missense variants cluster within the conserved forkhead domain. We found a higher phenotypic variability than previously described. Genotype-phenotype association revealed significant differences in psychomotor development and neurological features between FOXG1 genotype groups. More severe phenotypes were associated with truncating FOXG1 variants in the N-terminal domain and the forkhead domain (except conserved site 1) and milder phenotypes with missense variants in the forkhead conserved site 1. Conclusions: These data may serve for improved interpretation of new FOXG1 sequence variants and well-founded genetic counseling. 
534 |c 2017 
650 4 |a Child 
650 4 |a Child, Preschool 
650 4 |a DNA Mutational Analysis 
650 4 |a Female 
650 4 |a Forkhead Transcription Factors 
650 4 |a Genetic Association Studies 
650 4 |a Genetic Variation 
650 4 |a Genotype 
650 4 |a Humans 
650 4 |a Magnetic Resonance Imaging 
650 4 |a Male 
650 4 |a Nerve Tissue Proteins 
650 4 |a Phenotype 
650 4 |a Polymorphism, Single Nucleotide 
650 4 |a Rett Syndrome 
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