Novel HADHB mutations in a patient with mitochondrial trifunctional protein deficiency.
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ABSTRACT:
SUBMITTER: Nakama M
PROVIDER: S-EPMC7118068 | biostudies-literature | 2020
REPOSITORIES: biostudies-literature
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Novel <i>HADHB</i> mutations in a patient with mitochondrial trifunctional protein deficiency.
Nakama Mina M Sasai Hideo H Kubota Mitsuru M Hasegawa Yuki Y Fujiki Ryoji R Okuyama Torayuki T Ohara Osamu O Fukao Toshiyuki T
Human genome variation 20200402
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 ...[more]
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