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

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

Clinical Features	MBD5-specific mutation^20,22–24		2q23.1 Deletion^20,22–24		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%	-

ISSN: 1471-2350