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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