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

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

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Published inGenetics in medicine Vol. 20; no. 1; pp. 98 - 108
Main Authors Mitter, Diana, Pringsheim, Milka, Kaulisch, Marc, Plümacher, Kim Sarah, Schröder, Simone, Warthemann, Rita, Abou Jamra, Rami, Baethmann, Martina, Bast, Thomas, Büttel, Hans-Martin, Cohen, Julie S., Conover, Elizabeth, Courage, Carolina, Eger, Angelika, Fatemi, Ali, Grebe, Theresa A., Hauser, Natalie S., Heinritz, Wolfram, Helbig, Katherine L., Heruth, Marion, Huhle, Dagmar, Höft, Karen, Karch, Stephanie, Kluger, Gerhard, Korenke, G. Christoph, Lemke, Johannes R., Lutz, Richard E., Patzer, Steffi, Prehl, Isabelle, Hoertnagel, Konstanze, Ramsey, Keri, Rating, Tina, Rieß, Angelika, Rohena, Luis, Schimmel, Mareike, Westman, Rachel, Zech, Frank-Martin, Zoll, Barbara, Malzahn, Dörthe, Zirn, Birgit, Brockmann, Knut
Format Journal Article
LanguageEnglish
Published New York Elsevier Inc 01.01.2018
Nature Publishing Group US
Elsevier Limited
Subjects
631/208/205/2138
631/208/2489/144
631/208/457/649
692/617/375
Biomedical and Life Sciences
Biomedicine
Child
Child, Preschool
congenital variant of Rett syndrome
DNA Mutational Analysis
Female
Forkhead Transcription Factors - genetics
FOXG1 phenotypic spectrum
FOXG1 variants
Genetic Association Studies
Genetic counseling
Genetic Variation
Genotype
Genotype & phenotype
genotype–phenotype association
Human Genetics
Humans
Laboratory Medicine
Magnetic Resonance Imaging
Male
Nerve Tissue Proteins - genetics
original-research-article
Phenotype
Polymorphism, Single Nucleotide
Rett Syndrome - diagnosis
Rett Syndrome - genetics
FOXG1 variants
genotype–phenotype association
congenital variant of Rett syndrome
FOXG1 phenotypic spectrum
variants
Online AccessGet full text
ISSN1098-3600
1530-0366
1530-0366
DOI10.1038/gim.2017.75

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Abstract The study aimed at widening the clinical and genetic spectrum and assessing genotype–phenotype associations in FOXG1 syndrome due to FOXG1 variants. 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. 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. These data may serve for improved interpretation of new FOXG1 sequence variants and well-founded genetic counseling.
AbstractList 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.
PurposeThe study aimed at widening the clinical and genetic spectrum and assessing genotype-phenotype associations in FOXG1 syndrome due to FOXG1 variants.MethodsWe 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.ResultsAmong 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.ConclusionsThese data may serve for improved interpretation of new FOXG1 sequence variants and well-founded genetic counseling.
PurposeThe study aimed at widening the clinical and genetic spectrum and assessing genotype-phenotype associations in FOXG1 syndrome due to FOXG1 variants.MethodsWe 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.ResultsAmong 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.ConclusionsThese data may serve for improved interpretation of new FOXG1 sequence variants and well-founded genetic counseling.PurposeThe study aimed at widening the clinical and genetic spectrum and assessing genotype-phenotype associations in FOXG1 syndrome due to FOXG1 variants.MethodsWe 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.ResultsAmong 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.ConclusionsThese data may serve for improved interpretation of new FOXG1 sequence variants and well-founded genetic counseling.
The study aimed at widening the clinical and genetic spectrum and assessing genotype–phenotype associations in FOXG1 syndrome due to FOXG1 variants. 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. 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. These data may serve for improved interpretation of new FOXG1 sequence variants and well-founded genetic counseling.
Author Rieß, Angelika
Mitter, Diana
Huhle, Dagmar
Lutz, Richard E.
Fatemi, Ali
Hauser, Natalie S.
Conover, Elizabeth
Westman, Rachel
Patzer, Steffi
Schimmel, Mareike
Prehl, Isabelle
Abou Jamra, Rami
Eger, Angelika
Höft, Karen
Karch, Stephanie
Hoertnagel, Konstanze
Cohen, Julie S.
Courage, Carolina
Kluger, Gerhard
Brockmann, Knut
Baethmann, Martina
Büttel, Hans-Martin
Helbig, Katherine L.
Heruth, Marion
Malzahn, Dörthe
Warthemann, Rita
Bast, Thomas
Korenke, G. Christoph
Plümacher, Kim Sarah
Rating, Tina
Zirn, Birgit
Kaulisch, Marc
Rohena, Luis
Zoll, Barbara
Schröder, Simone
Lemke, Johannes R.
Pringsheim, Milka
Ramsey, Keri
Grebe, Theresa A.
Zech, Frank-Martin
Heinritz, Wolfram
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BackLink https://www.ncbi.nlm.nih.gov/pubmed/28661489$$D View this record in MEDLINE/PubMed
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ContentType Journal Article
Copyright 2018 The Author(s)
American College of Medical Genetics and Genomics 2018
Copyright Nature Publishing Group Jan 2018
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– notice: Copyright Nature Publishing Group Jan 2018
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Issue 1
Keywords FOXG1 variants
genotype–phenotype association
congenital variant of Rett syndrome
FOXG1 phenotypic spectrum
variants
Language English
License This article is made available under the Elsevier license.
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PublicationSubtitle Official journal of the American College of Medical Genetics and Genomics
PublicationTitle Genetics in medicine
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Snippet The study aimed at widening the clinical and genetic spectrum and assessing genotype–phenotype associations in FOXG1 syndrome due to FOXG1 variants. We...
Purpose The study aimed at widening the clinical and genetic spectrum and assessing genotype–phenotype associations in FOXG1 syndrome due to FOXG1 variants....
PurposeThe study aimed at widening the clinical and genetic spectrum and assessing genotype-phenotype associations in FOXG1 syndrome due to FOXG1...
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springer
elsevier
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StartPage 98
SubjectTerms 631/208/205/2138
631/208/2489/144
631/208/457/649
692/617/375
Biomedical and Life Sciences
Biomedicine
Child
Child, Preschool
congenital variant of Rett syndrome
DNA Mutational Analysis
Female
Forkhead Transcription Factors - genetics
FOXG1 phenotypic spectrum
FOXG1 variants
Genetic Association Studies
Genetic counseling
Genetic Variation
Genotype
Genotype & phenotype
genotype–phenotype association
Human Genetics
Humans
Laboratory Medicine
Magnetic Resonance Imaging
Male
Nerve Tissue Proteins - genetics
original-research-article
Phenotype
Polymorphism, Single Nucleotide
Rett Syndrome - diagnosis
Rett Syndrome - genetics
Title FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants
URI https://dx.doi.org/10.1038/gim.2017.75
https://link.springer.com/article/10.1038/gim.2017.75
https://www.ncbi.nlm.nih.gov/pubmed/28661489
https://www.proquest.com/docview/1985969041
https://www.proquest.com/docview/1914847433
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