Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies.

摘要: Abstract Congenital disorders of manganese metabolism are rare occurrences in children, and medical management these is complex challenging. Homozygous exonic mutations the transporter SLC39A14 have recently been associated with a pediatric-onset neurodegenerative disorder characterized by brain accumulation clinical signs neurotoxicity, including parkinsonism-dystonia. We performed whole exome sequencing on DNA samples from two unrelated female children United Arab Emirates progressive movement mineralization, identified novel homozygous intronic mutation both demonstrated that leads to aberrant splicing. Both had consistently elevated serum levels were diagnosed SLC39A14-associated manganism. Over four-year period, we utilized multidisciplinary approach for Patient 1 combining decreased dietary intake chelation symptomatic dystonia. Our treatment strategy appeared slow disease progression, but did not lead cure or reversal already established deficits. Clinicians should consider testing noncoding diagnosis congenital utilizing approaches disorders.