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Table 2 Comparison of clinical features of 2q23.1 deletion in this study and other cohorts or MBD5 specific mutation

From: A genomic copy number variant analysis implicates the MBD5 and HNRNPUgenes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion

Clinical Features MBD5-specific mutation20,22–24 2q23.1 Deletion20,22–24 Case in this study
  Number Percentage Number Percentage +, present; - absent
Neurological      
 Development delay 20/21 95% 53/55 96% +
 Language impairment 12/21 57% 38/55 69% +
 Seizure 11/21 52% 32/55 58% +
 Infantile spasms 0/21 0 0/55 0 +
 Infantile hypotonia 4/21 19% 23/55 41% +
Growth/Endocrine      
 Short stature 5/21 24% 25/55 45% -
 Local hirsutism 0/21 0 4/55 7% -
Craniofacial abnormalities      
 Coarse face 0/21 0 3/55 5% +
 Broad forehead 3/21 14% 4/55 7% +
 Microcephaly 1/21 5% 26/55 47% +(<2SD)
 Synophrys 2/21 9% 10/55 18% +mild
 Nasal abnormalities 7/21 33% 35/55 64% +
 Open mouth 3/21 14% 23/55 42% +
 Downturned corners of the mouth 3/21 14% 17/55 31% +
 Macroglossia or protruding tongue 2/21 9% 6/55 11% -
 Dental abnormalities 4/21 19% 13/55 24%  
Skeletal abnormalities      +
 Small hands and feet 1/21 5% 23/55 42% +
 Clinodactyly, 5th finger 2/21 9% 22/55 40% +
 Brachydactyly 0/21 0 13/55 24% +
 Short fifth digit of hands/feet 1/21 5% 14/55 25% +
 Absent hallux 0/21 0 0/55 0 +
Behaviors      -
 Autistic feature 13/21 62% 44/55 80% +
 Sleep disturbance 5/21 24% 17/55 31% ND
 Self-injurious behavior 2/21 9% 17/55 31% +
Other      -
 Cardiovascular abnormalities 1/21 5% 4/55 7% -
 Urogenital abnormalities 1/21 45% 1/55 2% -
  1. ND, not documented.