GPHN deletions in IGE and mutation-dependent recessive inheritance

Bild1Living in Cologne is a little tough at the moment. Currently, we are in the middle of the Cologne Carnival, the world’s oldest carnival, which started in 1829. Until the upcoming Wednesday the entire city is one big festival. In addition to the 1 million Cologne citizens probably another million tourists will join. Due to this (positive) distraction I will write less than usual. However, I still consider this week’s publications noteworthy.

Mutation-dependent recessive inheritance. In this weeks issue of Nature Genetics, Tory and coworkers report an autosomal-recessive disorder, nephrotic syndrome type 2, in which the pathogenicity of a missense variant depends on another trans-associated mutation. The authors demonstrate that the disease-causing allele leads to the disease phenotype only when it is associated with certain 3′ mutations.

Human transporter database. Are you interested in a specific gene which encodes a transporter protein and you want to have a comprehensive overview about its function or expression? Check the Human transporter database by Ye et al. published in PLoS ONE.

Exonic microdeletions of the gephyrin gene in IGE. Last year Ingo wrote a post about a study identifying GPHN deletions in a broad spectrum of neurodevelopmental phenotypes. This week our paper on GPHN deletions in patients with IGE was published. Check the online version of Neurobiology of Disease to find out why we think that exonic GPHN deletions impair GABAergic synaptic inhibition in patients with idiopathic generalized epilepsy.

Empowering the search for Mendelian-disease genes in family-based sequencing studies. In the recent issue of in The American Journal of Human Genetics Koboldt and colleagues present  a cross-platform-compatible software package for exome analysis of families affected by Mendelian diseases.

Pocket-sized genome sequencer. The first results of Oxford Nanopore’s MinION are out. Does this very small and mobile sequencer have the potential to shake up the sequencing industry? Read the results of the first evaluation in Nature News.

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