A new NBIA patient from Turkey with homozygous C19ORF12 mutation
Neurodegeneration with brain iron accumulation (NBIA) comprises a group of disorders with a progressive extrapyramidal syndrome and excessive iron deposition in the brain, particularly globus pallidus and substantia nigra. NBIA is considered to be a very rare disease group, with a prevalence of less than 1/1,000,000 in the general population [1, 2, 3]. Ten genes have been identified as associated with different NBIA subtypes. Only two of these genes (FTL and CP) encode proteins that play a direct role in iron metabolism, while the remaining eight (PANK2, PLA2G6, C19orf12, WDR45, FA2H, ATP13A2, DCAF17, and COASY) encode proteins involved in lipid metabolism, mitochondrial function, coenzyme A (CoA) metabolism, and autophagy . The most common forms of NBIA are pantothenate kinase-associated neurodegeneration (PKAN), PLA2G6-associated neurodegeneration (PLAN), and beta propeller protein-associated neurodegeneration (BPAN). Mitochondrial membrane protein-associated...
Sequencing was provided by the University of Washington Center for Mendelian Genomics (UW-CMG) and was funded by the National Human Genome Research Institute and the National Heart, Lung and Blood Institute Grant 2UM1HG006493 to Drs. Debbie Nickerson, Michael Bamshad, and Suzanne Leal.
Compliance with ethical standards
Conflict of interest
The authors declare that they have no conflict of interest.
All procedures were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments.
Informed consent was obtained from our patient’s family included in the study.
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