Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females

被引：45

作者：

Bartnik, Magdalena ^{[2
]}

Derwinska, Katarzyna ^{[2
]}

Gos, Monika ^{[2
]}

Obersztyn, Ewa ^{[2
]}

Kolodziejska, Katarzyna E. ^{[1
]}

Erez, Ayelet ^{[1
]}

Szpecht-Potocka, Agnieszka ^{[2
]}

Fang, Ping ^{[1
]}

Terczynska, Iwona ^{[3
]}

Mierzewska, Hanna ^{[3
]}

Lohr, Naomi J. ^{[4
]}

Bellus, Gary A. ^{[4
]}

Reimschisel, Tyler ^{[5
,6
]}

Bocian, Ewa ^{[2
]}

Mazurczak, Tadeusz ^{[2
]}

Cheung, Sau Wai ^{[1
]}

Stankiewicz, Pawel ^{[1
,2
]}

机构：

[1] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

[2] Inst Mother & Child Hlth, Dept Med Genet, Warsaw, Poland

[3] Inst Mother & Child Hlth, Clin Neurol Children & Adolescents, Warsaw, Poland

[4] Univ Colorado Denver, Dept Pediat, Aurora, CO USA

[5] Vanderbilt Univ, Sch Med, Dept Pediat, Nashville, TN 37212 USA

[6] Vanderbilt Univ, Sch Med, Dept Neurol, Nashville, TN 37212 USA

来源：

GENETICS IN MEDICINE | 2011年 / 13卷 / 05期

关键词：

RTT-like phenotype; severe psychomotor retardation; array CGH; seizures; CDKL5; LOW-LEVEL MOSAICISM; GENE; ENCEPHALOPATHY; MUTATION; MICROARRAY; VARIANT; GIRLS; BOY; CGH;

D O I：

10.1097/GIM.0b013e31820605f5

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Purpose: Mutations in the CDKL5 gene have been associated with an X-linked dominant early infantile epileptic encephalopathy-2. The clinical presentation is usually of severe encephalopathy with refractory seizures and Rett syndrome (RTT)-like phenotype. We attempted to assess the role of mosaic intragenic copy number variation in CDKL5. Methods: We have used comparative genomic hybridization with a custom-designed clinical oligonucleotide array targeting exons of selected disease and candidate genes, including CDKL5. Results: We have identified mosaic exonic deletions of CDKL5 in one male and two females with developmental delay and medically intractable seizures. These three mosaic changes represent 60% of all deletions detected in 12,000 patients analyzed by array comparative genomic hybridization and involving the exonic portion of CDKL5. Conclusion: We report the first case of an exonic deletion of CDKL5 in a male and emphasize the importance of underappreciated mosaic exonic copy number variation in patients with early-onset seizures and RTT-like features of both genders. Genet Med 2011: 13(5): 447-452.

引用

页码：447 / 452

页数：6

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