Gesehen am 24.04.2020 ; Advance online publication: 29 June 2017
Child; Child, Preschool; DNA Mutational Analysis; Female; Forkhead Transcription Factors; Genetic Association Studies; Genetic Variation; Genotype; Humans; Magnetic Resonance Imaging; Male; Nerve Tissue Proteins; Phenotype; Polymorphism, Single Nucleotide; Rett Syndrome
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.
Genetics in medicine Amsterdam : Elsevier, 1998 20(2018), 1, Seite 98-108 Online-Ressource
Oldenburg: BIS-Verl. der Carl von Ossietzky Univ. Oldenburg
XVI, 449 S. graph. Darst. 145 mm x 205 mm.
Beitr. teilw. dt., teilw. engl
Caucasian languages -- Syntax -- Congresses; Grammar, Comparative and general -- Adjuncts -- Congresses; Grammar, Comparative and general -- Syntax -- Congresses; Grammar, Comparative and general -- Verb phrase -- Congresses; Indo-European languages -- Syntax -- Congresses; Slavic languages -- Syntax -- Congresses; Turkic languages -- Syntax -- Congresses; Aufsatzsammlung; KonferenzschriftPrädikationPrädikatSyntaxSatzgliedAussagenlogikApophantik
This volume offers descriptive and theoretical studies on depictive secondary predicates in a wide variety of languages. While the focus is on the Middle and Eastern European area, including Slavonic, Baltic, Finno-Ugric, Turkic and Caucasian languages, and on languages of the Balkan Area, the scope of the collection is widened to studies of secondary predication in German and English, in the languages of Morocco and in Classical Aztec. The chapters deal with typological issues of secondary predicates and their debatable universality, with problems of distinguishing secondary predicates from other syntactic categories, with their syntactic status and their distinctive morphological marking. The published papers evolved from papers read at an international symposium on 'Descriptive an theoretical problems of secondary predicates, with emphasis on Middle and Eastern European languages', held at the University of Oldenburg, December 7-10, 2005. <engl.>
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