Combinations of exonic deletions and rare mutations lead to misdiagnosis of propionic acidemia
• One propionic acidemia case experienced next-generation sequencing three times. • Report two novel mutations of the PCCA gene, c.1746 G>C and exon3-4 deletion. • These compound heterozygous PCCA gene mutations cause propionic acidemia. • Present some limitations of whole-exome sequencing. • Emp...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Wang, Handuo [verfasserIn] |
|---|
| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2020 |
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| Schlagwörter: |
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| Umfang: |
6 |
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| Übergeordnetes Werk: |
Enthalten in: Li-CO - Zhang, Peng-Fang ELSEVIER, 2022, international journal of clinical chemistry and applied molecular biology, Amsterdam [u.a.] |
|---|---|
| Übergeordnetes Werk: |
volume:502 ; year:2020 ; pages:153-158 ; extent:6 |
| Links: |
|---|
| DOI / URN: |
10.1016/j.cca.2019.12.021 |
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| 520 | |a • One propionic acidemia case experienced next-generation sequencing three times. • Report two novel mutations of the PCCA gene, c.1746 G>C and exon3-4 deletion. • These compound heterozygous PCCA gene mutations cause propionic acidemia. • Present some limitations of whole-exome sequencing. • Emphasize the importance of clinical experience for genetic diagnosis. | ||
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Combinations of exonic deletions and rare mutations lead to misdiagnosis of propionic acidemia |
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• One propionic acidemia case experienced next-generation sequencing three times. • Report two novel mutations of the PCCA gene, c.1746 G>C and exon3-4 deletion. • These compound heterozygous PCCA gene mutations cause propionic acidemia. • Present some limitations of whole-exome sequencing. • Emphasize the importance of clinical experience for genetic diagnosis. |
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• One propionic acidemia case experienced next-generation sequencing three times. • Report two novel mutations of the PCCA gene, c.1746 G>C and exon3-4 deletion. • These compound heterozygous PCCA gene mutations cause propionic acidemia. • Present some limitations of whole-exome sequencing. • Emphasize the importance of clinical experience for genetic diagnosis. |
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• One propionic acidemia case experienced next-generation sequencing three times. • Report two novel mutations of the PCCA gene, c.1746 G>C and exon3-4 deletion. • These compound heterozygous PCCA gene mutations cause propionic acidemia. • Present some limitations of whole-exome sequencing. • Emphasize the importance of clinical experience for genetic diagnosis. |
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<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000caa a22002652 4500</leader><controlfield tag="001">ELV04914877X</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20230624152223.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">200128s2020 xx |||||o 00| ||eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.1016/j.cca.2019.12.021</subfield><subfield code="2">doi</subfield></datafield><datafield tag="028" ind1="5" ind2="2"><subfield code="a">/cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000000885.pica</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)ELV04914877X</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(ELSEVIER)S0009-8981(19)32190-4</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield 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code="c">2020</subfield></datafield><datafield tag="300" ind1=" " ind2=" "><subfield code="a">6</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">nicht spezifiziert</subfield><subfield code="b">zzz</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">nicht spezifiziert</subfield><subfield code="b">z</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">nicht spezifiziert</subfield><subfield code="b">zu</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">• One propionic acidemia case experienced next-generation sequencing three times. • Report two novel mutations of the PCCA gene, c.1746 G>C and exon3-4 deletion. • These compound heterozygous PCCA gene mutations cause propionic acidemia. • Present some limitations of whole-exome sequencing. • Emphasize the 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