Exons deletion of CNKSR2 gene identified in X-linked syndromic intellectual disability

BMC Medical Genetics

Table 1 Genetic and clinical details of 9 families with CNKSR2 deficiency

Case ID	CNKSR2 mutation	Number of patients	Affected patients	Developmental delay	Speech delay	Intellectual disability	Epilepsy/seizures	ADHD	Brain MRI	Sleep-EEG	Reference
Famlily 1	1.17 Mb deletion (20,297,696–21,471,387)	3	proband	yes	yes	yes	yes	yes	normal	CSWS	[7]
			brother	yes	yes	yes	yes	yes	normal	CSWS
			mother	no	no	mild	no	no	normal	normal
Famlily 2	0.51 Mb deletion (21,193,947–21,707,169)	2	proband	yes	yes	yes	yes	yes	no specific	normal	[7]
Famlily 2	0.51 Mb deletion (21,193,947–21,707,169)	2	brother	yes	yes	yes	no	yes	normal	normal	[7]
Famlily 3	0.342 Mb deletion (21,328,677–21,670,497)	1	proband	yes	yes	yes	yes	N/A	normal	CSWS	[12]
Famlily 4	0.234 Mb deletion (21,375,312–21,609,484)	1	proband		yes	yes	yes	yes	normal	CSWS	[7]
Famlily 5	0.234 Mb deletion (21,285,233–21,519,405)	1	proband	yes	yes	yes	yes	yes	normal	N/A	[5]
Famlily 6	frameshift mutation (g.21,458,832_3insA, p.D152RfsX8)	3	proband	yes	yes	yes	yes	yes	ND	ND	[7]
			brother	yes	mild	yes	Febrile	yes	minor cortical atrophy	N/A
			brother	yes	yes	yes	yes	yes	N/A	N/A
Famlily 7	nonsense mutation (c.2185C>T, p.Arg729Ter)	1	proband	yes	yes	yes	yes	yes	normal	CSWS	[10]
Famlily 8	nonsense mutation (c.2314 C>T;p.Arg712Ter)	5	proband	yes	yes	yes	yes	yes	normal	CSWS	[6]
			brother	N/A	mild	mild	yes	yes	normal	CSWS
			sister	N/A	mild	mild	mild	no	N/A	N/A
			mother	no	no	no	febrile	no	N/A	N/A
			maternal uncle	yes	yes	mild-to-moderate	yes	yes	N/A	N/A
Present Famlily	9.5 Kb deletion (21606698-21616207)	3	proband	yes	yes	yes	yes	yes	white matter lesions	CSWS	This case
			brother	yes	yes	yes	yes	yes	small multifocal white matter lesions	CSWS
			mother	no	mild	mild	Febrile	no	normal	ND

ADHD attention deficit and hyperactivity disorder: N/A not available, ND not done, CSWS continuous spike-and-slow-waves

ISSN: 1471-2350