European Journal of Human Genetics

Journal: European Journal of Human Genetics

Abbreviation

Eur J Hum Genet

Publisher

Nature

ISSN

1018-4813
1476-5438

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Publications 1 - 10 of 11

The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study
Papuc, Sorina M.; Abela, Lucia; Steindl, Katharina; et al. (2019)
European Journal of Human Genetics
Early-onset epileptic encephalopathy (EE) and combined developmental and epileptic encephalopathies (DEE) are clinically and genetically heterogeneous severely devastating conditions. Recent studies emphasized de novo variants as major underlying cause suggesting a generally low-recurrence risk. In order to better understand the full genetic landscape of EE and DEE, we performed high-resolution chromosomal microarray analysis in combination with whole-exome sequencing in 63 deeply phenotyped independent patients. After bioinformatic filtering for rare variants, diagnostic yield was improved for recessive disorders by manual data curation as well as molecular modeling of missense variants and untargeted plasma-metabolomics in selected patients. In total, we yielded a diagnosis in ∼42% of cases with causative copy number variants in 6 patients (∼10%) and causative sequence variants in 16 established disease genes in 20 patients (∼32%), including compound heterozygosity for causative sequence and copy number variants in one patient. In total, 38% of diagnosed cases were caused by recessive genes, of which two cases escaped automatic calling due to one allele occurring de novo. Notably, we found the recessive gene SPATA5 causative in as much as 3% of our cohort, indicating that it may have been underdiagnosed in previous studies. We further support candidacy for neurodevelopmental disorders of four previously described genes (PIK3AP1, GTF3C3, UFC1, and WRAP53), three of which also followed a recessive inheritance pattern. Our results therefore confirm the importance of de novo causative gene variants in EE/DEE, but additionally illustrate the major role of mostly compound heterozygous or hemizygous recessive inheritance and consequently high-recurrence risk.
Genetic analysis of dyslexia candidate genes in the European cross-linguistic NeuroDys cohort
Becker, Jessica; Maurer, Urs; Brandeis, Daniel; et al. (2014)
European Journal of Human Genetics
Heterogeneous clinical presentation in ICF syndrome
Weemaes, Corry M.; Tol, Maarten J.D. van; Wang, Jun; et al. (2013)
European Journal of Human Genetics
EPIBLASTER-Fast exhaustive two-locus epistasis detection strategy using graphical processing units
Kam-Thong, Tony; Czamara, Darina; Tsuda, Koji; et al. (2010)
European Journal of Human Genetics
Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection
Meienberg, Janine; Rohrbach, Marianne; Neuenschwander, Stefan; et al. (2010)
European Journal of Human Genetics
Post-mortem whole-exome analysis in a large sudden infant death syndrome cohort with a focus on cardiovascular and metabolic genetic diseases
Neubauer, Jacqueline; Lecca, Maria Rita; Russo, Giancarlo; et al. (2017)
European Journal of Human Genetics
Legal and ethical consequences of international biobanking from a national perspective
Goebel, Jürgen W.; Pickardt, Thomas; Bedau, Maren; et al. (2010)
European Journal of Human Genetics
Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome
Kloeckener-Gruissem, Barbara; Neidhardt, John; Magyar, István; et al. (2013)
European Journal of Human Genetics
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies
Glöckle, Nina; Kohl, Susanne; Mohr, Julia; et al. (2014)
European Journal of Human Genetics
Pericentric inversion of chromosome 18 in parents leading to a phenotypically normal child with segmental uniparental disomy 18
Kariminejad, Ariana; Kariminejad, Roxana; Moshtagh, Azadeh; et al. (2011)
European Journal of Human Genetics

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