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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. 5 Issue 1

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 Roxana Daneshjou on her recently published Molecular Genetics and Genomic Medicine paper entitled, "Population-specific single-nucleotide polymorphism confers increased risk of venous thromboembolism in African Americans;

Recently Published Articles

  1. You have full text access to this OnlineOpen article
    Nationwide genetic analysis for molecularly unresolved cystic fibrosis patients in a multiethnic society: implications for preconception carrier screening

    Doron M. Behar, Ori Inbar, Michal Shteinberg, Michal Gur, Huda Mussaffi, David Shoseyov, Moshe Ashkenazi, Soliman Alkrinawi, Concetta Bormans, Fahed Hakim, Meir Mei-Zahav, Malena Cohen-Cymberknoh, Adi Dagan, Dario Prais, Ifat Sarouk, Patrick Stafler, Bat El Bar Aluma, Gidon Akler, Elie Picard, Micha Aviram, Ori Efrati, Galit Livnat, Joseph Rivlin, Lea Bentur, Hannah Blau, Eitan Kerem and Amihood Singer

    Version of Record online: 19 FEB 2017 | DOI: 10.1002/mgg3.278

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    Israel is characterized by genetically heterogeneous populations carrying a wide range of CFTR mutations. To assess the potential of expanding the current Israeli preconception screening program, a nationwide genotyping of 152 CF cases, representing 176 patients lacking molecular diagnosis, was conducted. Our data reveal an overwhelming hidden abundance of CFTR gene mutations suggesting that expanded preconception carrier screening might achieve higher preconception detection rates.

  2. You have full text access to this OnlineOpen article
    Genetic contributions to stuttering: the current evidence

    Carlos Frigerio-Domingues and Dennis Drayna

    Version of Record online: 19 FEB 2017 | DOI: 10.1002/mgg3.276

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    Evidence for genetic factors in persistent developmental stuttering has accumulated over the past four decades, and the genes that underlie this disorder are starting to be identified. The genes identified to date, all point to deficits in intracellular trafficking in this disorder.

  3. You have full text access to this OnlineOpen article
    A molecular analysis of the GBA gene in Caucasian South Africans with Parkinson's disease

    Melinda Barkhuizen, David G. Anderson, Francois H. van der Westhuizen and Anne F. Grobler

    Version of Record online: 8 FEB 2017 | DOI: 10.1002/mgg3.267

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    Mutations in the GBA-gene are a common risk factor for Parkinson's disease. Nonsynonymous GBA variants occurred in 12.38% of Parkinson's disease participants and 5% of controls in a Caucasian South African cohort.

  4. You have full text access to this OnlineOpen article
    Single-nucleotide substitution T to A in the polypyrimidine stretch at the splice acceptor site of intron 9 causes exon 10 skipping in the ACAT1 gene

    Hideo Sasai, Yuka Aoyama, Hiroki Otsuka, Elsayed Abdelkreem, Mina Nakama, Tomohiro Hori, Hidenori Ohnishi, Lesley Turner and Toshiyuki Fukao

    Version of Record online: 8 FEB 2017 | DOI: 10.1002/mgg3.275

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    cDNA analysis using fibroblasts cultured with cycloheximide indeed showed the occurrence of exon 10 skipping. A minigene splicing experiment clearly showed that the c.941-9T>A mutant resulted in transcripts with exon 10 skipping. cDNA analysis and minigene splicing experiments remain useful alternatives to reveal splice defects.

  5. You have full text access to this OnlineOpen article
    A novel de novo frameshift deletion in EHMT1 in a patient with Kleefstra Syndrome results in decreased H3K9 dimethylation

    Patrick R. Blackburn, Monique Williams, Margot A. Cousin, Nicole J. Boczek, Geoffrey J. Beek, Gwen A. Lomberk, Raul A. Urrutia, Dusica Babovic-Vuksanovic and Eric W. Klee

    Version of Record online: 26 JAN 2017 | DOI: 10.1002/mgg3.268

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    This case describes a female patient with a novel de novo frameshift deletion in EHMT1 with Kleefstra Syndrome that was diagnosed using whole exome sequencing after a lengthy 17-year diagnostic odyssey. In this report, we also performed functional studies using patient fibroblasts that showed decreased H3K9me2 compared to wild-type control cells, thus providing a rapid confirmatory test that complements molecular studies. Several recent reports have described novel variants of uncertain significance in EHMT1, and these assays could provide a quick readout of EHMT1 functional activity in vitro, thereby guiding downstream clinical management.

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