Complex mosaicCDKL5deletion with two distinct mutant alleles in a 4-year-old girl-Reference-Cited by-同舟云学术

Complex mosaicCDKL5deletion with two distinct mutant alleles in a 4-year-old girl

Published:2014-04-08 Issue:8 Volume:164 Page:2025-2028
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Boutry-Kryza Nadia¹²³,Ville Dorothée⁴,Labalme Audrey⁵,Calender Alain¹²⁶,Dupont Jean-Michel⁷,Touraine Renaud⁸,Edery Patrick²³⁵,des Portes Vincent⁴,Sanlaville Damien²³⁵,Lesca Gaetan¹²³⁵^ORCID

Affiliation:

1. Department of Molecular Genetics; Lyon University Hospital; Lyon France

2. Claude Bernard Lyon I University; Lyon France

3. CRNL; CNRS UMR 5292, INSERM U1028; Lyon France

4. Department of Pediatric Neurology; Lyon University Hospital; Lyon France

5. Department of Genetics; Lyon University Hospital; Lyon France

6. INSERM U1052; Lyon France

7. Cytogenetics Laboratory; Université Paris Descartes, Faculté de Médecine - APHP, Hôpital Cochin; Paris France

8. Department of Genetics; Hôpital Nord, Saint-Etienne University Hospital; Lyon France

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36547/fullpdf

Reference11 articles.

1. Key clinical features to identify girls with CDKL5 mutations;Bahi-Buisson;Brain,2008

2. Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females;Bartnik;Genet Med,2011

3. Detection of clinically relevant exonic copy-number changes by array CGH;Boone;Hum Mutat,2010

4. Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder;Erez;Neurogenetics,2009

5. ACVRL1 germinal mosaic with two mutant alleles in hereditary hemorrhagic telangiectasia associated with pulmonary arterial hypertension;Eyries;Clin Genet,2012

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1. CDKL5 Gene: Beyond Rett Syndrome;Journal of Pediatric Neurology;2021-04-13

2. Complex Mosaicism of Two Distinct Mutations in a Female Patient With KCNA2-Related Encephalopathy: A Case Report;Frontiers in Genetics;2020-08-12

3. High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders;Genetics in Medicine;2018-04

4. The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients;Molecular Diagnosis & Therapy;2017-02-14

5. West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1;European Journal of Human Genetics;2015-10-21