We are delighted to announce that Molecular Genetics & Genomic Medicine (MGGM) has published its second issue. MGGM is a peer reviewed, open access journal for rapid dissemination of high-quality research related to the dynamically developing areas of human, molecular and medical genetics. Our second issue includes some great papers covering the areas of spinal muscular atrophy, epidermolytic ichthyosis, and preeclampsia.
Below are Editor-in-Chief: Dr. Muenke’s issue highlights:
Challenges of diagnostic exome sequencing in an inbred founder population
Dimitar N. Azmanov, Teodora Chamova, Rick Tankard, Vladimir Gelev, Michael Bynevelt, Laura Florez, Dochka Tzoneva, Dora Zlatareva, Velina Guergueltcheva, Melanie Bahlo, Ivailo Tournev and Luba Kalaydjieva
Summary: Exome sequencing was used as a diagnostic tool in a Roma/Gypsy family with three subjects (one deceased) affected by lissencephaly with cerebellar hypoplasia, a clinically and genetically heterogeneous diagnostic category. We discuss the challenges and advantages faced in this type of study, both arising from the historical and current inbreeding in the largest European genetic isolate, and our strategies for dealing with the issues.
Demonstration of novel gain-of-function mutations of ?IIb?3: association with macrothrombocytopenia and glanzmann thrombasthenia-like phenotype
Hirokazu Kashiwagi, Shinji Kunishima, Kazunobu Kiyomizu, Yoshiro Amano, Hiroyuki Shimada, Masashi Morishita, Yuzuru Kanakura and Yoshiaki Tomiyama
Summary: We identified three gain-of-function mutations of ?IIb?3 in three unrelated Japanese families with macrothrombocytopenia. All reported ?IIb?3 mutations associated with macrothrombocytopenia were located in membrane proximal regions of aIIb or ?3, and led to active conformation of ?IIb?3
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