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2.   
Medical History  2014;58(3):454-455.
doi:10.1017/mdh.2014.36
PMCID: PMC4103387
6.  Tuberculosis and the Tubercle Bacillus 
Emerging Infectious Diseases  2005;11(8):1331.
doi:10.3201/eid1108.050611
PMCID: PMC3320493
Keywords: Mycobacterial infections; tuberculosis; bacterial diseases
9.  A germline missense mutation in COQ6 is associated with susceptibility to familial schwannomatosis 
Genetics in Medicine  2014;16(10):787-792.
Purpose:
Schwannomatosis, a subtype of neurofibromatosis, is characterized by multiple benign, nonvestibular, nonintradermal schwannomas. Although the tumor suppressor SMARCB1 gene has been frequently identified as the underlying genetic cause of half of familial and ~10% of sporadic schwannomatosis, for most other cases, further causative genes remain to be discovered. Herein, we characterize the genome of a schwannomatosis family without constitutional inactivation of the SMARCB1 gene to explore novel genomic alterations predisposing individuals to the familial disease.
Methods:
We performed whole-genome/exome sequencing on genomic DNA of both schwannomatosis-affected and normal members of the family.
Results:
We identified a novel missense mutation (p.Asp208His; c.622G>C) in the coenzyme Q10 (CoQ10) biosynthesis monooxygenase 6 gene (COQ6) in schwannomatosis-affected members. The deleterious effects of the COQ6 mutations were validated by their lack of complementation in a coq6-deficient yeast mutant. Our study further indicated that the resultant haploinsufficiency of COQ6 might lead to CoQ10 deficiency and chronic overproduction of reactive oxygen species in Schwann cells.
Conclusion:
Although the exact oncogenetic mechanisms in this schwannomatosis family remain to be elucidated, our data strongly indicate a probable role of COQ6 mutation and CoQ10 deficiency in the development of familial schwannomatosis.
doi:10.1038/gim.2014.39
PMCID: PMC4189385  PMID: 24763291
coenzyme CoQ10 (CoQ10) deficiency; CoQ10 biosynthesis monooxygenase 6 gene (COQ6); reactive oxygen species; schwannomatosis

Results 1-9 (9)