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Table 2 SHANK3 genetic variation in 401 individuals with Phelan-McDermid syndrome

From: Phenome-wide profiling identifies genotype-phenotype associations in Phelan-McDermid syndrome using family-sourced data from an international registry

Genetic variant

N (%)

Mosaic

22q13 deletion including SHANK3

350 (87.3%)

 

 Terminal deletion

340 (97.1%)

11

  Simple deletion

70 (20.6%)

1

  Unbalanced translocation

41 (12.1%)

1

  Ring chromosome 22

29 (8.5%)

2

  Other rearrangementsa

6 (1.8%)

1

  Unknownb

194 (57.1%)

6

 Interstitial deletion

10 (2.9%)

2

SHANK3 sequence variant

51 (12.7%)

 

 Frameshift

40 (78.4%)

 

 Nonsense

5 (9.8%)

 

 Splice site

2 (3.9%)

 

 Missense

4 (7.8%)

 
  1. aOther rearrangements in chromosome 22 included 2 satellited chromosomes, 1 pseudodicentric chromosome, 1 unbalanced inversion, and 2 uncharacterized rearrangements
  2. bPatients with terminal deletions identified by chromosomal microarray but without a karyotype to exclude the presence of a ring chromosome were classified as unknown
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Molecular Autism

ISSN: 2040-2392