Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy
HH Wong, SH Seet, M Maier, A Gurel… - The American Journal of …, 2021 - cell.com
Human C2orf69 is an evolutionarily conserved gene whose function is unknown. Here, we
report eight unrelated families from which 20 children presented with a fatal syndrome
consisting of severe autoinflammation and progredient leukoencephalopathy with recurrent
seizures; 12 of these subjects, whose DNA was available, segregated homozygous loss-of-
function C2orf69 variants. C2ORF69 bears homology to esterase enzymes, and orthologs
can be found in most eukaryotic genomes, including that of unicellular phytoplankton. We …
report eight unrelated families from which 20 children presented with a fatal syndrome
consisting of severe autoinflammation and progredient leukoencephalopathy with recurrent
seizures; 12 of these subjects, whose DNA was available, segregated homozygous loss-of-
function C2orf69 variants. C2ORF69 bears homology to esterase enzymes, and orthologs
can be found in most eukaryotic genomes, including that of unicellular phytoplankton. We …
[PDF][PDF] Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen storage-associated mitochondriopathy
NA Akarsu, S Maurer-Stroh, A Cetinkaya… - STAR - core.ac.uk
Human C2orf69 is an evolutionarily conserved gene whose function is unknown. Here, we
report eight unrelated families from which 20 children presented with a fatal syndrome
consisting of severe autoinflammation and progredient leukoencephalopathy with recurrent
seizures; 12 of these subjects, whose DNA was available, segregated homozygous loss-of-
function C2orf69 variants. C2ORF69 bears homology to esterase enzymes, and orthologs
can be found in most eukaryotic genomes, including that of unicellular phytoplankton. We …
report eight unrelated families from which 20 children presented with a fatal syndrome
consisting of severe autoinflammation and progredient leukoencephalopathy with recurrent
seizures; 12 of these subjects, whose DNA was available, segregated homozygous loss-of-
function C2orf69 variants. C2ORF69 bears homology to esterase enzymes, and orthologs
can be found in most eukaryotic genomes, including that of unicellular phytoplankton. We …
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