Table 1 Summary of all cases with a SRS-like phenotype due to the haploinsufficiency of HMGA2 described in literature
| Â | Sex | Genotype Microdeletion/Mutation | Inheritance | IUGR | SGA | Failure To Thrive | Relative macrocephaly | Asimmetry | Fifth-finger clinodactyly | Frontal bossing/prominent forehead | Triangular facies | Micrognathia/Narrow chin | Short stature | Language delay | Other developmental disorders | Osteopoikilosis |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Menten et al. 2007 [9] - Case 1a | F | Del 6 Mb | Unknown | No | No | No | No | No | No | No | No | Yes | Yes | No | Delayd neuromotor development and learning difficulties | Yes |
Menten et al. 2007 [9] - Case 2a | F | Del 6 Mb | Unknown | No | No | No | No | No | No | No | No | No | Yes | No | Learning difficulties and intellectual disability | Yes |
Menten et al. 2007 [9] - Case 3a | M | Del 3,44 Mb | Unknown | Unknown | Yes | No | No | No | No | No | Yes | Yes | Yes | No | Delayd neuromotor development and learning difficulties | Yes |
Mari et al. 2009 [14] | M | Del 1,83 Mb | De novo | Yes | Yes | No | No | No | No | Yes | Yes | Yes | Yes | Yes | Motor delay | No |
Buysse et al. 2009 [12] - Case 1 | M | Del exon 2 | Maternal | No | No | Yes | No | No | No | No | No | No | Yes | No | No | No |
Buysse et al. 2009 [12] - Case 2a | M | Del 8,95 Mb | De novo | Yes | Yes | Yes | No | No | No | Yes | No | No | Yes | No | Global developmental delay | No |
Buysse et al. 2009 [12] - Case 3a | M | Del 3,48 Mb | De novo | Yes | Yes | Yes | No | No | No | No | No | No | Yes | No | Mild developmental delay | No |
Spengler et al. 2010a [15] | F | Del 1,35 Mb | De novo | Yes | Yes | Yes | Yes | No | Yes | Yes | Yes | No | Yes | Yes | No | No |
Lynch et al. 2011 [16] -Case 1 | F | Del 10,11 Mb | De novo | No | No | Yes | No | No | Yes | No | No | No | Yes | Yes | Developmental delay | No |
Lynch et al. 2011 [16] - Case 2 | F | Del 10,12 Mb | De novo | No | No | Yes | Yes | No | No | Yes | No | No | Yes | No | Intellectual disability, ASD | No |
Bibb et al. 2012a [17] | F | Del 3,2 Mb | Maternal | No | No | Yes | No | No | Yes | No | No | Yes | Yes | Yes | Mild intellectal disability and behavioural problems | No |
Bibb et al. 2012 [17] - Mothera | F | Del 3,2 Mb | Unknown | Unknown | Yes | Yes | No | No | Yes | No | No | Yes | Yes | Yes | Learning disabilities | Yes |
Alyaqoub et al. 2012a [18] | F | Del 4,17 Mb | De novo | Yes | Yes | No | No | No | No | No | Yes | No | Yes | Yes | Hypotonia | No |
Takenouchi et al. 2012 [19] | F | Del 4 Mb | De novo | Yes | Yes | Yes | No | No | No | No | No | No | Yes | No | No | No |
Nso-Roca et al. 2014 [20] | F | Del 8,35 Mb | De novo | No | No | Yes | No | No | No | Yes | Yes | No | Yes | No | No | No |
Mc Cormack et al. 2015a [21] | M | Del 3,8 Mb | Unknown | Yes | No | No | Yes | No | No | No | No | No | Yes | No | ASD | No |
Raymond et al. 2015 [22] (prenatal diagnosis) | M | Del 387 Kb t(1;12;14)(q42;q14;q32) | De novo | Yes | (ITG) | (ITG) | No | No | No | Yes | Yes | Yes | (ITG) | (ITG) | (ITG) | No |
De Crescenzo et al. 2015 [11] | F | Del 7 bp at splicing site acceptor (intr 4) | Maternal | Unknow | Yes | Yes | Yes | No | Yes | Yes | No | Yes | Yes | Unknown | Unknown | No |
Abi Habib 2018 [10] - Case 1 | F | Nonsense mutation | De novo | Unknown | Yes | Yes | Yes | No | No | Yes | Yes | Yes | Yes | Unknown | Unknown | No |
Abi Habib 2018 [10] - Case 2 | M | Frameshift mutation | Unknown | Unknown | Yes | Yes | Yes | No | No | Yes | Yes | Yes | Yes | Unknown | Unknown | No |
Fischetto et al. 2017a [23] - Brother 1 | M | Del 1,9 Mb | Maternal | Yes | Yes | No | No | No | No | No | Yes | No | Yes | No | No | Yes |
Fischetto et al. 2017a [23] - Brother 2 | M | Del 1,9 Mb | Maternal | Yes | Yes | No | No | No | No | No | Yes | No | Yes | No | Developmental delay | No |
Fischetto et al. 2017a [23] - Mother | F | Del 1,9 Mb | Unkown | Yes | Yes | No | No | No | No | No | Yes | Yes | Yes | No | Motor delay | Yes |
Leszinski et al. 2018 [8] | F | Del exon 1–2 | De novo | Unknown | Yes | Yes | No | No | No | Yes | Yes | Yes | Yes | No | No | No |
Heldt et al. 2018a [13] - Sister 1 | F | Del 1,67 Mb | Maternal | No | Yes | Yes | No | No | No | Yes | No | No | Yes | No | No | No |
Heldt et al. 2018a [13] - Brother | M | Del 1,67 Mb | Maternal | No | Yes | Yes | No | No | No | No | No | No | Yes | No | No | No |
Heldt et al. 2018a [13] - Mother | F | Del 1,67 Mb | Unknown | Unknown | Unknown | No | No | No | No | No | No | No | Yes | No | No | No |
Our patient | M | Del 425 Kb | De novo | Unknown | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | No | No |