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Table 1 Clinical features associated with different FOXG1 variants

From: Diagnosis of FOXG1 syndrome caused by recurrent balanced chromosomal rearrangements: case study and literature review

  FOXG1 intragenic missense mutations [17] FOXG1 intragenic truncating mutations [17] Balanced translocations or microdeletions [11] Microduplications involving FOXG1 [11] Balanced Translocation (this study)
Forkhead cs1 missense N-terminal nonsense or frameshift Enhancer disruption Increased dosage Enhancer disruption
Sample size of each study 12 37 16 9 1
Genetic test Sequencing Sequencing Karyotyping and FISHa Array and FISH Karyotyping and FISHa
Severe intellectual disability 100%; 12/12 100%; 37/37 100%; 11/11 10%; 1/9 +
HC at follow-up (< − 2 SD) 50%; 5/10 96%; 23/24 100%; 11/11 (postnatal microcephaly) 22%; 2/9 (postnatal microcephaly) +
HC at birth (< 2 SD) 13%; 1/8 33%; 6/18 NA NA NA
No walking (absent) 33%; 4/12 91%; 31/34 100%; 11/11 0%; 0/9 +
No verbal speech 67%; 8/12 86%; 30/35 100%; 11/11 78%; 7/9 +
Social interaction 13%; 1/8 (poor) 38%; 12/31 (6 absent; 6 poor) 100%; 7/7 (poor) NA +
Abnormal sleep pattern 57%; 4/7 70%; 16/23 75%; 3/4 22%; 2/9 +
Inappropriate laughing 43%; 3/7 43%; 9/21 100%; 4/4 11%; 1/9 +
Bruxism 71%; 5/7 88%; 14/16 89%; 8/9 NA
Strabismus 50%; 4/8 95%; 19/20 88%; 7/8 11%; 1/9 +
Epilepsy 75%; 9/12 81%; 29/36 90%; 9/10 56%; 5/9 +
Stereotypic movements 75%; 6/8 85%; 23/27 100%; 7/7 22%; 2/9 +
Feeding difficulties 75%; 6/8 100%; 21/21 100%; 8/8 NA +
Corpus callosum anomalies 33%; 3/9 83%; 20/24 90%; 9/10 (hypogenesis) NA b
  1. HC head circumference, SD standard deviation, NA not available, cs conserve site 1, + phenotype observed; − phenotype not observed. Data are displayed as observed percentages and fractions of clinical, neurological, and behavioral anomalies
  2. Balanced translocations, microdeletions, and duplications involving the FOXG1 gene presented in the Mehrjouy et al. paper [11] include three original cases and the remaining reviewed from the literature
  3. aA diagnostic algorithm is proposed to diagnose FOXG1 syndrome caused by recurrent structural aberrations disrupting a distant enhancer
  4. bMRI at 4 month of age was reportedly unremarkable, but not available for review