Expanding the genetic spectrum of the pyruvate carboxylase deficiency with novel missense, deep intronic and structural variants.
Deep intronic variants
Pyruvate carboxylase deficiency
Reciprocal translocations
WES
WGS
Journal
Molecular genetics and metabolism reports
ISSN: 2214-4269
Titre abrégé: Mol Genet Metab Rep
Pays: United States
ID NLM: 101624422
Informations de publication
Date de publication:
Sep 2022
Sep 2022
Historique:
received:
03
04
2022
revised:
17
06
2022
accepted:
18
06
2022
entrez:
5
7
2022
pubmed:
6
7
2022
medline:
6
7
2022
Statut:
epublish
Résumé
Pathogenic variants in the pyruvate carboxylase (PC) gene cause a wide spectrum of recessive phenotypes, ranging from the early-onset fatal encephalopathy to the adult-onset benign form. Patient 1 is a 6 y.o. boy with ataxia, hypoglycemia and episodes of lactic acidosis. WGS revealed the novel heterozygous missense variant c.1372A > G (p.Asn458Asp) in the In patients with metabolic crises, lactic acidosis and hypoglycemia analysis of
Identifiants
pubmed: 35782291
doi: 10.1016/j.ymgmr.2022.100889
pii: S2214-4269(22)00049-0
pmc: PMC9240867
doi:
Types de publication
Journal Article
Langues
eng
Pagination
100889Informations de copyright
© 2022 The Authors.
Déclaration de conflit d'intérêts
All authors have seen and approved the manuscript. All authors declare no conflict of interest.
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