CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain

Table 1 CDKL5 mutation/variant identified in this study

Total number of females studied*	Number of DNA variants*	Location	Nucleotide change	Aminoacid change	Domain	Effect	Reference**
60 p	1 p	Exon 8	c.509_510insGT	p.Glu170GlyfsX36	Catalytic	Pathogenic	NEW, this study
60 p	1 p	Exon 10	c.745-?_825 + ?del	----------	Catalytic	Pathogenic	NEW, this study
160 (60p + 100c)	1 p	Exon 12	c.1455_1460delGGCCAA	p.Ala486_Lys487del	C-Ter	Unknown Variation	NEW, this study
160 (60p + 100c)	7 (1p + 6 c)	Exon 17	c.2389 G > A	p.Asp797Asn	C-Ter	Polymorphism	NEW, this study
160 (60p + 100c)	6 (1p + 5 c)	Before exon 1	c.-426 C > G	----------	------	Polymorphism	NEW, this study
60 p	1 p	Intron 6	c.403 + 27A > G	----------	------	Without pathogenic effect	NEW, this study
160 (60p + 100c)	2 (1p + 1c)	Exon 21	c.2995 G > A	p.Val999Met	C-Ter	Polymorphism (SNP: rs35693326)	Nectoux et al. [26] Intusoma et al. [27]
160 (60p + 100c)	6 (2p + 4c)	Before exon 1	c.-391 G > T	----------	------	Polymorphism	Evans et al. [12]
60 p	2 p	Exon 4, 21	c.145 + 17A > G; c. 3003 C > G; c. 3084 G > A	p.His1001His; p.Thr1028Thr	Catalytic, C-Ter	Polymorphism	Tao et al. [28]

*p: Female patients; c: control healthy females.
** New mutations/variants have not been described in any of the 10 Genome databases revised [15–24].

ISSN: 1471-2350