Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients

BMC Medical Genetics

Table 1 Detailed clinical manifestations, mutations and ration of XCI of patients

NO.	Patient 1	Patient 2	Patient 3	Patient 4	Patient 5	Patient 6 and 7	Patient 8	Patient 9	Patient 10
Age	2 yrs	3 yrs	3 yrs	4 yrs	5 yrs	2 yrs and 6 mo	5 mo	13 mo	2 yrs and 9 mo
Gender	F	F	F	F	F	F	M	F	F
Seizure onset	22 ds	10 ds	1.2 mo	3.3 mo	1 mo	2.3 mo	2 mo	1.2 mo	1.3 mo
Partial seizures	22 ds- now	10 ds-2 yrs	1.2 mo- now	3.3 mo-3 yrs	1 mo-now	2.3 mo-now	2 mo-now	1.2 mo-now	1.3 mo-now
Spasm	2.2 mo-now	2 mo-now	1.5 mo-now	3.7 mo-3 yrs	1.5 yrs-now	3 mo-now	2 mo-now	-	2.5 yrs-now
Myoclonic seizures	-	2 yrs-now	-	-	-	-	-	-	2.8 yrs-now
Tonic seizures	-	2 yrs-now	-	-	-	-	-	-	2.8 yrs-now
Drug resistance	+	+	+	+	+	+	+	+	+
Hypsarrhythmia	-	+	-	-	+	+	+	-	-
Deceleration of head growth	+	+	+	+	+	+	+	+	+
Hypotonia	+	+	+	+	+	+	+	+	+
Limited hand skills	+	+	+	+	+	+	+	+	+
Stereotypies	+	+	+	+	+	+	-	+	+
Sit unaided	16 mo	11 mo	18 mo	24 mo	6 mo	6 mo	-	-	-
Walk (ever)	-	-	-	-	A few steps	_	-	-	-
Speech	Absent	One word	Absent	Absent	Absent	Absent	Absent	Absent	Absent
Autistic features^a	+	+	+	+	+	+	+	+	+
Autonomic features^b	NA	+	NA	+	+	+	-	+	+
MRI or CT	-	-	-	-	-	-	-	-	-
CDKL5 mutations	c.1111 delC	ISV13 + A > G	c.1791 insG	ISV6 + 1A > G	c.1375C > T;	c.891_892ins TT	c.533G > A;	c.2360delA	c.234delA
Position of mutatins	C-terminal	C-terminal	C-terminal	Catalytic domain	C-terminal	Catalytic domain	Catalytic domain	C-terminal	Catalytic domain
XCI ratio	50:50	63:37	55:45	53:47	58:42	60:40/56:44	-	52:48	54:46

Abbreviations: EOEE, early onset epileptic encephalopathy; Hanefeld RTT, Hanefeld variant of Rett syndrome; IS, infantile spasms; F, female; M, male; yrs, years; mo, months; ws, weeks; ds, days; HC, head circumference; cm, centimeter; NA, nonavailable.
^aautistic features include avoidance of eye gazing, reduced social interaction.
^bautonomic features include breathing dysrhythmia, hypalgesic, bruxism, cold extremities.

ISSN: 1471-2350