Publications by authors named "Christopher D Balak"

2 Publications

  • Page 1 of 1

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

Mol Genet Genomic Med 2015 Jul 8;3(4):283-301. Epub 2015 Apr 8.

Integrated Cancer Genomics, Translational Genomics Research Institute (TGen) Phoenix, Arizona.

Neuromuscular diseases (NMD) account for a significant proportion of infant and childhood mortality and devastating chronic disease. Determining the specific diagnosis of NMD is challenging due to thousands of unique or rare genetic variants that result in overlapping phenotypes. We present four unique childhood myopathy cases characterized by relatively mild muscle weakness, slowly progressing course, mildly elevated creatine phosphokinase (CPK), and contractures. We also present two additional cases characterized by severe prenatal/neonatal myopathy. Prior extensive genetic testing and histology of these cases did not reveal the genetic etiology of disease. Here, we applied whole exome sequencing (WES) and bioinformatics to identify likely causal pathogenic variants in each pedigree. In two cases, we identified novel pathogenic variants in COL6A3. In a third case, we identified novel likely pathogenic variants in COL6A6 and COL6A3. We identified a novel splice variant in EMD in a fourth case. Finally, we classify two cases as calcium channelopathies with identification of novel pathogenic variants in RYR1 and CACNA1S. These are the first cases of myopathies reported to be caused by variants in COL6A6 and CACNA1S. Our results demonstrate the utility and genetic diagnostic value of WES in the broad class of NMD phenotypes.
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http://dx.doi.org/10.1002/mgg3.142DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4521965PMC
July 2015

Review of X-linked syndromes with arthrogryposis or early contractures-aid to diagnosis and pathway identification.

Am J Med Genet A 2015 May 19;167A(5):931-73. Epub 2015 Mar 19.

Integrated Functional Cancer Genomics, Translational Genomics Research Institute, Phoenix, Arizona.

The following is a review of 50 X-linked syndromes and conditions associated with either arthrogryposis or other types of early contractures. These entities are categorized as those with known responsible gene mutations, those which are definitely X-linked, but the responsible gene has not been identified, and those suspected from family history to be X-linked. Several important ontology pathways for known disease genes have been identified and are discussed in relevance to clinical characteristics. Tables are included which help to identify distinguishing clinical features of each of the conditions.
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http://dx.doi.org/10.1002/ajmg.a.36934DOI Listing
May 2015