Novel HADHB mutations in a patient with mitochondrial trifunctional protein deficiency
| Autor: | Toshiyuki Fukao, Osamu Ohara, Mitsuru Kubota, Mina Nakama, Yuki Hasegawa, Torayuki Okuyama, Hideo Sasai, Ryoji Fujiki |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
lcsh:QH426-470
Metabolic disorders lcsh:Life Mitochondrial trifunctional protein deficiency Biology Biochemistry 03 medical and health sciences Exon Complementary DNA 0502 economics and business Genetics research Genetics medicine Data Report Molecular Biology 030304 developmental biology 0303 health sciences Newborn screening 05 social sciences Intron medicine.disease Molecular biology Enzyme assay lcsh:Genetics lcsh:QH501-531 biology.protein Deep intronic mutation 050203 business & management HADHB |
| Zdroj: | Human Genome Variation, Vol 7, Iss 1, Pp 1-4 (2020) Human Genome Variation |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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