You have full text access to this Open Access content

Molecular Genetics & Genomic Medicine

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

Cover image for Vol. 3 Issue 4

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

Online ISSN: 2324-9269

Featured "Early View" Articles

  • Novel pathogenic variants and genes for myopathies identified by whole exome sequencing

    Novel pathogenic variants and genes for myopathies identified by whole exome sequencing

    In this article, we describe six diagnostic odyssey cases of myopathy and the novel genetic variants that we identified as the probable cause of neuromuscular disease. In particular we have identified variants in CACNA1S as the cause of a new, severe form of central core disease. In addition, we identify novel pathogenic variants in COL6A3 (images shown above), COL6A6, EMD, and RYR1.

  • Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses

    Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses

    We compared minigene splicing assays with patient RNA analyses for 28 intronic, exonic and deep-intronic variants in the Mismatch repair genes associated with Lynch syndrome. 100% concordance was found between both tests in assessment of aberrant splicing, although we found differences in the exact splice pattern for four variants. We discuss the weight given to minigene splicing assays in the current criteria proposed by InSiGHT for clinical classification of MMR variants.

  • Limb body wall complex, amniotic band sequence, or new syndrome caused by mutation in IQ Motif containing K (IQCK)?

    Limb body wall complex, amniotic band sequence, or new syndrome caused by mutation in IQ Motif containing K (IQCK)?

    We present the first genetic characterization of an individual who has elements of both limb body wall complex (LBWC) and amniotic band sequence (ABS), but may also be a new syndrome. Both LBWC and ABS do not have a known genetic etiology, and there has been much debate on whether these two conditions are the same or separate entities. Using whole exome sequencing, we have found a genetic mutation in the gene IQ motif containing K (IQCK), which has not been previously reported in the medical literature. Using functional studies in the zebrafish, we have confirmed IQCK as the causative gene.

  • Regulatory variant in FZD6 gene contributes to nonsyndromic cleft lip and palate in an African-American family

    Regulatory variant in FZD6 gene contributes to nonsyndromic cleft lip and palate in an African-American family

    We identified a promoter variant in Frizzled 6 (FZD6) that segregated with nonsyndromic cleft lip and palate in a large African-American family. This variant creates a novel protein-binding site that decreases promoter expression and causes craniofacial anomalies in zebrafish. These results demonstrate that variation in FZD6 vt causes a functional change which may contribute to nonsyndromic cleft lip and palate in this family.

  • Inherited CHST11/MIR3922 deletion is associated with a novel recessive syndrome presenting with skeletal malformation and malignant lymphoproliferative disease

    Inherited CHST11/MIR3922 deletion is associated with a novel recessive syndrome presenting with skeletal malformation and malignant lymphoproliferative disease

    Here, we describe two sisters out of seven siblings affected by congenital limb malformation and malignant lymphoproliferative disease. Using WGS, we identified in the proband deletion of a 55 kb region within chromosome 12q23 that encompasses part of CHST11 (encoding chondroitin-4-sulfotransferase 1) and an embedded microRNA (MIR3922). Given that CHST11 deficiency causes severe chondrodysplasia in mice that is similar to human limb malformation, these results underscore the importance of chondroitin modification in normal skeletal development, and also potentially reveal an unexpected role for CHST11 and/or MIR3922 as tumor suppressors whose disruption may contribute to malignant lymphoproliferative disease.

  • Novel pathogenic variants and genes for myopathies identified by whole exome sequencing
  • Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses
  • Limb body wall complex, amniotic band sequence, or new syndrome caused by mutation in IQ Motif containing K (IQCK)?
  • Regulatory variant in FZD6 gene contributes to nonsyndromic cleft lip and palate in an African-American family
  • Inherited CHST11/MIR3922 deletion is associated with a novel recessive syndrome presenting with skeletal malformation and malignant lymphoproliferative disease

Recently Published Issues

See all

New Articles Online

Editorial Highlights

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

Global epidemiology of Familial Mediterranean fever mutations using population exome sequences by Kohei Fujikura

Novel pathogenic variants and genes for myopathies identified by whole exome sequencing by Jesse M. Hunter, Mary Ellen Ahearn, Christopher D. Balak, Winnie S. Liang, Ahmet Kurdoglu, Jason J. Corneveaux, Megan Russell, Matthew J. Huentelman, David W. Craig, John Carpten, Stephen W. Coons, Daphne E. DeMello, Judith G. Hall, Saunder M. Bernes and Lisa Baumbach-Reardon

Critical roles for WDR72 in calcium transport and matrix protein removal during enamel maturation by Shih-Kai Wang, Yuanyuan Hu, Jie Yang, Charles E. Smith, Stephanie M. Nunez, Amelia S Richardson, Soumya Pal, Andrew C. Samann, Jan C.-C. Hu and James P. Simmer

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
 Prenatal Diagnosis Journal of Gene Medicine
  Prenatal Diagnosis  Journal of Gene Medicine
 International Journal of Immunogenetics
  International Journal of Immunogenetics

_________________________________

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.

New Video Highlight

View More Video Highlights

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."

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.

Call for Papers

Submit now!

We are delighted to invite you to submit your paper to Molecular Genetics & Genomic Medicine. Papers are welcomed reporting research in the fields of genetic medicine and human molecular genetics. Examples include:
• genomic analysis of inherited disorders
• reports of novel disease-causing mutations and polymorphisms
• functional studies of mutant gene products
• in-depth documentation of genotype-phenotype analysis
• clinical case reports
• novel approaches to clinical diagnosis
• new applications of molecular diagnostic methods
• reports describing genetic databases
• medical bioinformatics
• genetic epidemiology

As an author publishing in MGGM you would benefit from:
• High standard, rigorous peer review
• Rapid publication
• Open access: articles are published under Creative Commons license and authors are the copyright holder
• Fully compliant with open access mandates
• Wide dissemination
• Promotion and publicity of quality research
• Wiley's tradition in publishing excellence in human and medical genetics

Original research papers must report well-conducted research with conclusions supported by the data presented.

Under the NIH public access policy, final articles will be deposited by Wiley into PubMed Central, with no embargo. Please see here for further details.

Submit here >
For further information please feel free to contact the Editorial Office at mggm@wiley.com.

SEARCH

SEARCH BY CITATION