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].

Maortua et al.

Maortua et al. BMC Medical Genetics 2012 13:68   doi:10.1186/1471-2350-13-68

Open Data