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Molecular Genetics & Genomic Medicine

Each article is made available under the terms of the Creative Commons Attribution License

Cover image for Vol. 3 Issue 5

Editor-in-Chief: Maximilian Muenke, M.D., Deputy Editor: Suzanne Hart, Ph.D.

Online ISSN: 2324-9269

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New video highlight created by Anna Middleton on her recently published Molecular Genetics and Genomic Medicine paper entitled, "Genetic counselors and Genomic Counseling in the United Kingdom."

Recently Published Articles

  1. You have full text access to this OnlineOpen article
    A distinctive oral phenotype points to FAM20A mutations not identified by Sanger sequencing

    James A. Poulter, Claire E. L. Smith, Gina Murrillo, Sandra Silva, Sally Feather, Marianella Howell, Laura Crinnion, David T. Bonthron, Ian M. Carr, Christopher M. Watson, Chris F. Inglehearn and Alan J. Mighell

    Article first published online: 4 OCT 2015 | DOI: 10.1002/mgg3.164

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    We identified two recessive Amelogenesis Imperfecta families in whom monoallelic FAM20A mutations were identified by Sanger sequencing of genomic DNA. Further screening by reverse-transcriptase PCR and CNV detection by whole genome sequencing (CNVseq) was required in order to identify the second mutation in each case. Our study highlights the presenece of FAM20A mutations which would be missed by commonly used mutation screening techniques. This finding has important consequences for ongonig clinical care and renal assessment for both families.

  2. You have full text access to this OnlineOpen article
    CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome

    Josephine Wincent, Aron Luthman, Martine van Belzen, Christian van der Lans, Johanna Albert, Ann Nordgren and Britt-Marie Anderlid

    Article first published online: 22 SEP 2015 | DOI: 10.1002/mgg3.177

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    In this study, we report the mutation spectrum in CREBBP and EP300 among 17 Swedish patients with a clinical diagnosis of Rubinstein–Taybi syndrome, including a novel pathogenic EP300 mutation and intronic CREBBP alterations of uncertain clinical significance, together with detailed clinical phenotypes. Snoring and sleep apnea were common in both groups and four of the patients' mothers had preeclampsia during pregnancy. Importantly, difficulties associated with anesthesia were frequently reported and included delayed or complicated emergence in 53.3% of patients.

  3. You have full text access to this OnlineOpen article
    Fam83h null mice support a neomorphic mechanism for human ADHCAI

    Shih-Kai Wang, Yuanyuan Hu, Jie Yang, Charles E. Smith, Amelia S Richardson, Yasuo Yamakoshi, Yuan-Ling Lee, Figen Seymen, Mine Koruyucu, Koray Gencay, Moses Lee, Murim Choi, Jung-Wook Kim, Jan C-C. Hu and James P. Simmer

    Article first published online: 21 SEP 2015 | DOI: 10.1002/mgg3.178

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    We identified three FAM83H mutations (two novel ones) that cause autosomal dominant hypocalcified amelogenesis imperfecta (ADHCAI). We generated and characterized Fam83h-knockout/ NLS-lacZ-knocking mice, characterized FAM83H self-interactions and interactions with casein kinase 1, and conclude that FAM83H truncation mutations cause ADHCAI through a gain-of-function mechanism.

  4. You have full text access to this OnlineOpen article
    Medical genetics and genomic medicine in Greece: achievements and challenges (pages 383–390)

    Irini Manoli and Helen Fryssira

    Article first published online: 15 SEP 2015 | DOI: 10.1002/mgg3.179

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    Medical genetics and genomic medicine in Greece: achievements and challenges.

  5. You have full text access to this OnlineOpen article
    The dentin phosphoprotein repeat region and inherited defects of dentin

    Jie Yang, Kazuhiko Kawasaki, Moses Lee, Bryan M. Reid, Stephanie M. Nunez, Murim Choi, Figen Seymen, Mine Koruyucu, Yelda Kasimoglu, Ninna Estrella-Yuson, Brent P. J. Lin, James P. Simmer and Jan C.-C. Hu

    Article first published online: 7 SEP 2015 | DOI: 10.1002/mgg3.176

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    We demonstrate that single molecule real-time DNA sequencing is able to sequence through the lengthy, highly repetitive coding region of dentin sialophosphoprotein (DSPP) and has been used to identify a novel, disease-causing frameshift mutation in DSPP. A tree generated from the alignment of confirmed dentin phosphoprotein length haplotypes describes how the haplotypes might have evolved.