Molecular Genetics & Genomic Medicine has now published its next issue. Editor-in-Chief: Max Muenke introduces his editorial highlights: “Our second volume continues with the high-quality manuscripts that you have come to expect, with articles on Usher syndrome exome sequencing, identification of novel mutations in Donohue syndrome, and a revision of the mitochondrial tRNA pathogenicity scoring system. In addition, we announce a new feature, “Genetics and Genomic Medicine around the World”. Highlights of the first issue of Volume 2 include “Exome sequencing identifies NFS1 deficiency in a novel Fe-S cluster disease, infantile mitochondrial complex II/III deficiency” and “Candidate disease gene prediction using Gentrepid: application to a genome-wide association study on coronary artery disease”.
Exome sequencing identifies NFS1 deficiency in a novel Fe-S cluster disease, infantile mitochondrial complex II/III deficiency by Sali M. K. Farhan, Jian Wang, John F. Robinson, Piya Lahiry, Victoria M. Siu, Chitra Prasad, Jonathan B. Kronick, David A. Ramsay, C. Anthony Rupar and Robert A. Hegele. Summary: We describe infantile mitochondrial complex II/III deficiency, a novel autosomal recessive mitochondrial disease characterized by lactic acidemia, hypotonia, respiratory chain complex II and III deficiency, multisystem organ failure, and abnormal mitochondria. Through autozygosity mapping, exome sequencing, in silico analyses, population studies, and functional tests, we identified c.215G>A, p.Arg72Gln in NFS1 as the likely causative mutation. We describe the first disease in man likely caused by deficiency in NFS1, a cysteine desulfurase that is implicated in respiratory chain function and iron maintenance by initiating Fe-S cluster biosynthesis.
Candidate disease gene prediction using Gentrepid: application to a genome-wide association study on coronary artery disease by Sara Ballouz, Jason Y. Liu, Martin Oti, Bruno Gaeta, Diane Fatkin, Melanie Bahlo and Merridee A. Wouters. Summary: The application of a candidate disease gene prediction tool to a genome-wide association study on coronary artery disease revealed numerous novel candidates. The method and results of this analysis using protein networks and protein functional domains are presented here, along with the candidates.
The journal now also publishes the new feature Genetics and Genomic Medicine around the World. Below is the editorial explaining this new feature:
“Genetics and Genomic Medicine around the World” by Maximilian Muenke
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