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Table 1 Summary of all cases with a SRS-like phenotype due to the haploinsufficiency of HMGA2 described in literature

From: 12q14.3 microdeletion involving HMGA2 gene cause a Silver-Russell syndrome-like phenotype: a case report and review of the literature

  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
  1. a Deletions involving also LEMD3 gene
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Italian Journal of Pediatrics

ISSN: 1824-7288

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