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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. 2 Issue 5

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

Online ISSN: 2324-9269

Featured

  • Mutation spectrum and genotype-phenotype correlations in a large French cohort of MYH9-Related Disorders

    Mutation spectrum and genotype-phenotype correlations in a large French cohort of MYH9-Related Disorders

    This study represents one of the largest cohort of patients with MYH9-RD ever studied including 109 patients from 37 sporadic cases and 39 unrelated families. Performed over 8 years, it has involved all of the principal centers in France involved in the care of patients with inherited thrombocytopenias. We have identified 43 genetic variants, 21 of which are novel to our patients. Therefore, we have considerably extended the number of mutations known to give rise to this disease and consolidate the genotype-phenotype relationships in this disease.

  • CTSC and Papillon–Lefèvre syndrome: detection of recurrent mutations in Hungarian patients, a review of published variants and database update

    CTSC and Papillon–Lefèvre syndrome: detection of recurrent mutations in Hungarian patients, a review of published variants and database update

    Papillon–Lefèvre syndrome (PLS) is an autosomal recessive condition characterized by palmoplantar hyperkeratosis and periodontitis. PLS is caused by mutations of the cathepsin C gene (CTSC). To date, a total of 75 different disease-causing mutations have been published for the CTSC gene. A review of published mutations is presented in this update.

  • A rare sequence variant in intron 1 of THAP1 is associated with primary dystonia

    A rare sequence variant in intron 1 of THAP1 is associated with primary dystonia

    Although coding variants in THAP1 have been causally associated with primary dystonia, the contribution of noncoding variants remains uncertain. Therefore, we examined an Intron 1 variant (c.71+9C>A, rs200209986) in THAP1. In aggregate, our case–control and functional analyses showed that THAP1 c.71+9C>A exerts deleterious effects on splicing and cell-cycle control and is a risk factor for adult-onset primary dystonia.

  • Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome

    Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome

    This report identifies novel compound heterozygous missense mutations in ALDH18A1 in two siblings with ARCL3A. The mutations affect a conserved C-terminal domain of the encoded protein and reduce protein stability as determined through Western blot analysis of patient fibroblasts. In addition, patient fibroblasts exhibit a lipid droplet phenotype similar to that recently reported in Warburg Micro syndrome.

  • A-T-Winnipeg: Pathogenesis of rare ATM missense mutation c.6200C>A with decreased protein expression and downstream signaling, early-onset dystonia, cancer, and life-threatening radiotoxicity

    A-T-Winnipeg: Pathogenesis of rare ATM missense mutation c.6200C>A with decreased protein expression and downstream signaling, early-onset dystonia, cancer, and life-threatening radiotoxicity

    We describe and characterize a specific missense change in the ATM gene that associates with a very atypical A-T phenotype of early-onset dystonia, mild ataxia, as well as a high cancer risk and hypersensitivity to radiation therapy and chemotherapy. We identify a unique mutation in the ATM gene, c.6200C>A, and a unique associated STR (short tandem repeat) haplotype, and demonstrate with stable transfectants that, although the wild-type ATM transcript (6200C variant) abrogates the cellular phenotype of A-T cells, an otherwise identical transcript containing the 6200A variant does not. We show that this mutation is unique, to date, in Mennonite Anabaptists.

  • Mutations of NOTCH3 in childhood pulmonary arterial hypertension

    Mutations of NOTCH3 in childhood pulmonary arterial hypertension

    We report the first case of NOTCH3 gene mutations in idiopathic pulmonary arterial hypertension (PAH) patients. This study helps to elucidate the pathogenesis of PAH from a new standpoint.

  • Mutation spectrum and genotype-phenotype correlations in a large French cohort of MYH9-Related Disorders
  • CTSC and Papillon–Lefèvre syndrome: detection of recurrent mutations in Hungarian patients, a review of published variants and database update
  • A rare sequence variant in intron 1 of THAP1 is associated with primary dystonia
  • Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome
  • A-T-Winnipeg: Pathogenesis of rare ATM missense mutation c.6200C>A with decreased protein expression and downstream signaling, early-onset dystonia, cancer, and life-threatening radiotoxicity
  • Mutations of NOTCH3 in childhood pulmonary arterial hypertension

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Editorial Highlights

All MGGM articles are free to read, download and share. Editorial highlights from the latest issue are:

Craniofacial morphometric analysis of individuals with X-linked hypohidrotic ectodermal dysplasia by Alice F. Goodwin, Jacinda R. Larson, Kyle B. Jones, Denise K. Liberton, Maya Landan, Zhifeng Wang, Anne Boekelheide, Margaret Langham, Vagan Mushegyan, Snehlata Oberoi, Rosalie Brao, Timothy Wen, Ramsey Johnson, Kenneth Huttner, Dorothy K. Grange, Richard A. Spritz, Benedikt Hallgrímsson, Andrew H. Jheon and Ophir D. Klein

Disease variants in genomes of 44 centenarians by Yun Freudenberg-Hua, Jan Freudenberg, Vladimir Vacic, Avinash Abhyankar, Anne-Katrin Emde, Danny Ben-Avraham, Nir Barzilai, Dayna Oschwald, Erika Christen, Jeremy Koppel, Blaine Greenwald, Robert B. Darnell, Soren Germer, Gil Atzmon and Peter Davies

Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome by Peter M. Krawitz, Daniela Schiska, Ulrike Krüger, Sandra Appelt, Verena Heinrich, Dmitri Parkhomchuk, Bernd Timmermann, Jose M. Millan, Peter N. Robinson, Stefan Mundlos, Jochen Hecht and Manfred Gross

Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing by Daniel Trujillano, Gemma Bullich, Stephan Ossowski, José Ballarín, Roser Torra, Xavier Estivill and Elisabet Ars

Click the button above to view the Editor's Choice from all recent issues.

Supported by Leading Journals

A number of Wiley's genetics journals support MGGM via the Manuscript transfer program:

 American Journal of Medical Genetics - Part A  Human Mutation
  American Journal of Medical Genetics - Part A  Human Mutation
 American Journal of Medical Genetics - Part B  Genetic Epidemiology
  American Journal of Medical Genetics - Part B  Genetic Epidemiology
 Clinical Genetics Annals of Human Genetics
  Clinical Genetics Annals of Human Genetics

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Centers for Medelian Genomics

The National Human Genome Research Institute and the National Heart, Lung, and Blood Institute have partnered to support the discovery of variant genes underlying Mendelian disorders at three Centers for Mendelian Genomics. Click here for more information.

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New video highlight created by Johan Palmfeldt, Paula Fernández-Guerra, and Rune Isak Dupont Birkler on their recently published Molecular Genetics and Genomic Medicine paper entitled, "Selected Reaction Monitoring (SRM) as an effective method for reliable quantification of disease-associated proteins in Maple Syrup Urine Disease."

Meet the Editor

Meet the Editor

Maximilian MuenkeRead Dr. Muenke's inaugural editorial.

Dr. Max Muenke trained in Pediatrics in his native Germany. He pursued postdoctoral training in Human Genetics at Yale and the University of Pennsylvania and completed a fellowship in Clinical Genetics at the Children’s Hospital of Philadelphia. For the past two decades, the focus of his research has been on the delineation and identification of the underlying causes of craniofacial anomalies in humans. His lab made seminal discoveries in linking Sonic Hedgehog signaling to normal and abnormal brain development in humans and has identified over a dozen genes involved in holoprosencephaly, the most common anomaly of the developing forebrain. His group identified several genes important in craniofacial disorders including the most common craniosynostosis syndrome, now termed Muenke syndrome. More recently, his lab has identified susceptibility loci for the most common behavioral disorder in childhood, Attention-Deficit/Hyperactivity Disorder (ADHD), with further research focused on predicting severity, treatment response, and long-term outcome. Dr. Muenke is also interested in personalized medicine, from understanding rare and common diseases to their treatment and prevention.

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