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Epileptic encephalopathy in a girl with an interstitial deletion of Xp22 comprising promoter and exon 1 of the CDKL5 gene
Author(s) -
BahiBuisson Nadia,
Girard Benoit,
Gautier Agnes,
Nectoux Juliette,
Fichou Yann,
Saillour Yoann,
Poirier Karine,
Chelly Jamel,
Bienvenu Thierry
Publication year - 2010
Publication title -
american journal of medical genetics part b: neuropsychiatric genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.393
H-Index - 126
eISSN - 1552-485X
pISSN - 1552-4841
DOI - 10.1002/ajmg.b.30974
Subject(s) - multiplex ligation dependent probe amplification , rett syndrome , exon , mecp2 , epilepsy , hypotonia , genetics , encephalopathy , biology , myoclonic epilepsy , medicine , gene , neuroscience , phenotype
We report a 2‐year‐old girl with early onset seizures variant of Rett syndrome with a deletion at Xp22 detected by multiplex ligation‐dependent probe amplification (MLPA) technique. This patient presented with tonic seizures at 7 days of life. Subsequently, she developed infantile spasms at three months and finally refractory myoclonic epilepsy. She demonstrated severe encephalopathy with hypotonia, deceleration of head growth, with eye gaze but limited eye pursuit, no language, limited hand use, and intermittent hand stereotypies. This combination of clinical features, suggestive of early onset variant of Rett syndrome led us to screen the CDKL5 gene. In a first step, screening of the whole coding sequence of the CDKL5 gene revealed no point mutations. In a second step, we searched gross rearrangements by MLPA and identified a microdeletion affecting both the promoter and exon 1 in CDKL5 . Subsequent analysis on a Nimblegen HD2 microarray confirmed a deletion of approximately 300 kb at Xp22, including the BEND2 , SCML2 , and CDKL5 genes. In conclusion, our report suggests that searching for large rearrangements in CDKL5 should be considered in girls with early onset seizures and Rett‐like features. © 2009 Wiley‐Liss, Inc.