Mental retardation, seizures and language delay caused by new SETD1B mutations: Three case reports

Table 1 The result of gene detection and the main clinical phenotypes of the three children

Child No.	Child 1	Child 2	Child 3
Age	Eight years old	Four years and eight months	one year and one month
Gender	Female	Male	Female
Gene	SETD1B	SETD1B	SETD1B
Nationality, ethnic group	Chinese, Han	Chinese, Han	Chinese, Han
Exon	exon 14	exon 11	exon 1
Parental consanguinity	No	No	No
Nucleotide change	c.5473C>T	c.4120C>T	c.14_15insC
Amino acid change	p.Arg1825Trp	p.Gln1374*,593	p.His5Hisfs*33
Parental consanguinity	No	No	No
Main clinical phenotypes	Seizure, EEG abnormality, attention deficit hyperactivity disorder, delayed ability to walk, epileptic encephalopathy	Impaired social interactions, delayed speech and language development, global developmental delay, motor delay, dyskinesia	Seizure, motor delay, myoclonus, fair hair, EEG abnormality, abnormal dermatoglyphics, delayed ability to walk

EEG: Electroencephalogram.