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Table 1 Clinical features associated with different MEIS2 variants

From: MEIS2 (15q14) gene deletions in siblings with mild developmental phenotypes and bifid uvula: documentation of mosaicism in an unaffected parent

  MEIS2 dels/dups# MEIS2 mutations& Patient A# Patient H# II-2; II-3 I-1
Mutation size/coordinates$ Variable SNVs and indels 194 Kb/chr15:36989551_37184183 2.92 Mb/chr15:34308789_37231638 423 Kb/chr15: chr15:36808211-37231497
Non-mosaic Mosaic
Mutation types Disruption including exon 9* 7 nonsense; 6 missense; 3 splicing; 2 in-frame del; 2 frameshift mutation Exon 12 deletion* Exon 10–12 deletion* Exon 10–12 deletion*
Inheritance Mode 19 de novo; 2 familial;8 NA 18 de novo/2 pat de novo de novo pat de novo
Palate defects 22/26; 1 NA 16/20  −   −  Bifid uvula  − 
Cardiac defects 10/26; 1 NA 13/18; 2 NA  −   −   −  ASD
Developmental delay  +   +   +   +  Mild  − 
Walked@ 14mo-4y 18mo (Giliberti et al. 2020); 26mo (11 cases reviewed in Verheije et al., 2019); 30mo (Santoro et al. 2021); 32mo (Su et al. 2020); NA (6 cases from Srivastava et al. 2018, Hildebrand et al. 2020, Douglas et al. 2018) 27mo 30mo II-2: 18mo; II-3: 21mo  − 
Facial features Variable: 10/12 (14 cases from Verheije et al. 2019) Variable; 17/17; 3 NA  −  Anteverted nares, asymmetric ears with abnormal helix  −   − 
Intellectual disability 19/21; 8 NA 20/20  +   +  NA  − 
  1. NA not available, + phenotype observed, − phenotype not observed, ASD atrial septal defect, SNV single nucleotide variant, dels/dups microdeletions/microduplications, indels small insertion/deletions, pat paternal, mo months, y years
  2. #Reference [2]—Verheije et al. (2019)
  3. &Reference [2]—Verheije et al. (2019) [14],—Douglas et al. (2018), [15]—Giliberti et al. (2020), [18]—Hildebrand et al. (2020), [19]—Su et al. (2020), [20]—Fujita et al. (2016), [21]—Santoro et al. (2021), [22]—Srivastava et al. (2018)
  4. $Genomic coordinates are based on the genome assemble GRCh37/hg19
  5. *Exon definition is based on the NM_170676.5 transcript