Novel HADHB mutations in a patient with mitochondrial trifunctional protein deficiency
Mina Nakama1,2, Hideo Sasai1,2, Mitsuru Kubota3
11Clinical Genetics Center, Gifu University Hospital, Gifu, Japan.
Human Genome Variation
|April 8, 2020
Abstract:
We encountered a patient with mitochondrial trifunctional protein deficiency in whom the corresponding mutations were not identified by a DNA panel for newborn screening for targeted diseases. After diagnosis confirmation by an enzyme assay and immunoblotting using the autopsied liver, the re-evaluation of the panel data indicated a heterozygous deletion of exons 6-9 that was later confirmed at the genomic level. cDNA analysis also identified exonization of the 5' region of intron 9 caused by a deep intronic mutation, c.811 + 82A>G.
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