An isoform of the severe encephalopathy-related CDKL5 gene, including a novel exon with extremely high sequence conservation, is specifically expressed in brain

被引：27

作者：

Fichou, Yann ^{[2
]}

Nectoux, Juliette ^{[2
]}

Bahi-Buisson, Nadia ^{[2
,3
]}

Chelly, Jamel ^{[2
,4
]}

Bienvenu, Thierry ^{[1
,2
,4
]}

机构：

[1] INSERM, Inst Cochin, Fac Med Cochin, Dept Genet & Dev Port Royal 24,U1016, F-75014 Paris, France

[2] Univ Paris 05, Inst Cochin, CNRS, UMR 8104, Paris, France

[3] Hop Necker Enfants Malad, Serv Neuropediat, Paris, France

[4] Hop Cochin, AP HP, Lab Biochim & Genet Mol, F-75674 Paris, France

来源：

JOURNAL OF HUMAN GENETICS | 2011年 / 56卷 / 01期

关键词：

alternative splicing; CDKL5; conservation; early seizures; Rett syndrome; subcellular localization; ONSET INTRACTABLE EPILEPSY; RETT-SYNDROME; INFANTILE SPASMS; MENTAL-RETARDATION; INTERSTITIAL DELETION; SEIZURE VARIANT; MUTATIONS; MECP2; IDENTIFICATION; DISORDER;

D O I：

10.1038/jhg.2010.143

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report the identification of a novel exon, which is referred to as exon 16b, within the cyclin-dependent kinase (CDK)-like 5 (CDKL5) gene that is implicated in the X-linked infantile spasm syndrome and the early-onset seizure variant of Rett syndrome. Interestingly, it is highly conserved in species through evolution, suggesting a potential functional role, but does not display any homology with other referenced sequences. Most importantly, the transcript including this exon is specifically expressed in brain. We suggest that CDKL5 exon 16b should now be considered in the genetic screening of patients presenting with a CDKL5-related disease profile. Journal of Human Genetics (2011) 56, 52-57; doi:10.1038/jhg.2010.143; published online 2 December 2010

引用

页码：52 / 57

页数：6

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