Table 2

Clinical features of female patients with alterations in the FOXG1 gene

 Feature This study Ariani et al11 Shoichet et al16 Bisgaard et al29 Papa et al25 Kamnasaran et al28 Patient 1 Patient 2 Case 1 Case 2 Case 3 (Grammatico et al26) Case 5 (Schuffenhauer et al27) Mutation p.Trp308X p.Tyr400X p.Trp255X p.Ser323fsX325 t(2;14)(p22;q12) breakpoint in intron 3 2.65–3.5 Mb deletion and t(X;3) 3.4 Mb deletion ∼4 Mb deletion ∼10 Mb deletion Gender F F F F F F F M M Age at last clinical examination (years) 22 11 22 7 7 14 7 7 3 Normal perinatal period Yes Yes Yes Yes No Yes Yes ? No Age of onset 4 months 6 months 3 months 3 months 2 weeks 7 months 6 months few months – Acquired microcephaly Yes Yes Yes Yes Yes Yes No (present at birth) Yes Yes Loss of voluntary hand use No No ? ? ? ? ? ? Hand stereotypies Yes Yes Yes Yes ? ? Yes ? No Speech No No No No No ? ? No Cognitive impairment Yes (severe) Yes Yes Yes Yes ? Yes Yes Yes Autistic features Yes Yes ? ? No ? Yes Yes ? Walking No Yes (at 2.5 years) No No No ? No ? No Hypotonia Yes No ? ? No (muscle rigidity) ? Yes Yes Yes Inappropriate laughing Yes Yes ? ? ? ? ? ? Growth retardation Yes No ? ? ? ? Yes (intrauterine) ? Yes Bruxism Yes No Yes Yes ? ? Yes ? ? Abdominal bloating Yes No ? ? ? ? Yes ? ? Breathing irregularities No No Yes Yes ? ? ? ? Scoliosis No No Yes Yes ? ? Yes ? ? Cold feet No No Yes Yes ? ? Yes ? Yes Brain malformations Yes No Yes Yes Yes No No ? Yes Corpus callosum Hypoplasia – Hypoplasia Hypoplasia Agenesis – – ? Agenesis Ventricles Enlargement – No No Enlargement – – – Yes (asymmetric) Epilepsy (age of onset) Yes (2nd year) No Yes (14 years) Yes (21/2 years) Yes (?) No Yes (6 months) Yes No MECP2/CDKL5 tested Yes/Yes Yes/No Yes/Yes Yes/Yes No/No No/No Yes/Yes No/No No/No
• Large deletions that were not precisely mapped by means of molecular analysis were not included.