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Table 5 Comparison of the prevalence of phenotypes between patients with 22q13 deletions encompassing more than SHANK3 gene and loss of SHANK3 alone

From: A 29 Mainland Chinese cohort of patients with Phelan–McDermid syndrome: genotype–phenotype correlations and the role of SHANK3 haploinsufficiency in the important phenotypes

Clinical feature 22q13 deletions encompass more than SHANK3 gene Loss of SHANK3 alone P valuea
Physical features
 Microcephalyb 2/11(18%) 1/10(10%) 1.000
 Macrocephalyc 0/11(0%) 1/10(10%) 1.000
 Sparse eyebrows 1/11(9%) 2/10(20%) 0.586
 Long eyelashes 0/11(0%) 1/10(10%) 1.000
 Periorbital fullness 3/11(27%) 2/10(20%) 1.000
 Descending palpebral fissure 4/11(36%) 3/10(30%) 1.000
 Hypertelorism 3/11(27%) 0/10(0%) 0.214
 Strabismus 4/11(36%) 2/10(20%) 0.635
 Epicanthal folds 0/11(0%) 1/10(10%) 1.000
 Wide nasal bridge 2/11(18%) 1/10(10%) 1.000
 Large/wide nose 2/11(18%) 0/10(0%) 1.000
 Bulbous nose 1/11(9%) 2/10(20%) 1.000
 Anteverted nares 0/11(0%) 1/10(10%) 1.000
 Full cheeks 0/11(0%) 1/10(10%) 1.000
 Frontal bossing 2/11(18%) 2/10(20%) 1.000
 Short philtrum 1/11(9%) 0/10(0%) 1.000
 Ear anomalies 1/11(9%) 4/10(40%) 0.149
 Thick lower lip 1/11(9%) 2/10(20%) 0.586
 Down-turned mouth 2/11(18%) 1/10(10%) 1.000
 Short stature/delayed growthd 1/17(6%) 1/12(8%) 1.000
 Tall stature/accelerated growthe 4/17(24%) 1/12(8%) 0.370
Developmental/neurological
 DD/ID 13/15(87%) 10/11(91%) 1.000
 Speech (absent speech versus sentences, age ≥ 3) 8/12(67%) 3/8(38%) 0.370
 Any type of seizures (including febrile seizures) 4/17(24%) 3/12(25%) 1.000
 Overheats or turns red easily 3/17(13%) 2/12(17%) 1.000
 Decreased perspiration 2/17(6%) 0/12(0%) 1.000
 Overly sensitive to touch 3/17(18%) 2/12(17%) 1.000
 Increased pain tolerance 11/17(65%) 7/12(58%) 1.000
 Arachnoid cyst 3/17(18%) 1/12(8%) 0.622
 Hypotonia 12/17(71%) 12/12(100%) 0.059
 Gait abnormalities 10/17(59%) 6/12(50%) 1.000
 Neuroimaging abnormalities 9/12(75%) 4/9(44%) 0.159
Behavioral features
 Autism spectrum disorder (age ≥ 3) 10/17(59%) 7/8(88%) 0.205
 Impulsiveness 11/17(65%) 11/12(92%) 0.187
 Chewing difficulties (difficulty with eating) 5/17(29%) 5/12(42%) 0.694
 Biting (self or others) 5/17(29%) 4/12(33%) 1.000
 Hair pulling 4/17(19%) 5/12(42%) 0.231
 Excessive screaming 3/17(24%) 2/12(17%) 1.000
 Aggressive behavior 5/17(29%) 4/12(33%) 1.000
 Nonstop crying (crying non-stop for 3 h) 6/17(35%) 7/12(58%) 0.274
 Hyperactivity 14/17(82%) 10/12(83%) 1.000
 Self-injury 3/17(24%) 0/12(0%) 0.246
 Pica 1/17(6%) 2/12(17%) 0.553
 Repetitive behaviors 11/17(65%) 9/12(75%) 0.694
 Sleep disturbance 4/17(19%) 3/12(25%) 1.000
 Regression 5/17(29%) 7/11(63%) 0.121
Other clinical features
 Gastroesophageal reflux 2/17(12%) 0/12(0%) 0.498
 Diarrhea/constipation 3/17(24%) 4/12(33%) 1.000
 Genital anomalies 1/15(7%) 0/7(0%) 1.000
 Eczema 4/17(24%) 4/12(33%) 0.683
 Immune deficiency 1/17(7%) 0/12(0%) 1.000
 Recurring upper respiratory tract infections 5/17(29%) 1/12(8%) 0.354
 Hearing loss 1/17(7%) 0/12(0%) 1.000
 Congenital heart defect 2/17(12%) 1/12(8%) 1.000
 Allergies 3/17(24%) 2/12(17%) 1.000
 Asthma 1/17(7%) 0/12(0%) 1.000
  1. aAll P values are Fisher’s Exact
  2. bHead circumference < 3rd percentile
  3. cHead circumference > 98th percentile
  4. dHeight < 3rd percentile
  5. eHeight > 98th percentile
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172