Live Birth of a Healthy Child in a Couple with Identical mtDNA Carrying a Pathogenic c.471_477delTTTAAAAinsG Variant in the
MOCS2 gene
Ohtahara syndrome
PGT-M
consanguinity
maternal ancestry
mtDNA relatives
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
15 03 2023
15 03 2023
Historique:
received:
11
02
2023
revised:
04
03
2023
accepted:
13
03
2023
medline:
30
3
2023
entrez:
29
3
2023
pubmed:
30
3
2023
Statut:
epublish
Résumé
Molybdenum cofactor deficiency type B (MOCODB; #252160) is an autosomal recessive metabolic disorder that has only been described in 37 affected patients. In this report, we describe the presence of an in-frame homozygous variant (c.471_477delTTTAAAAinsG) in the
Identifiants
pubmed: 36980992
pii: genes14030720
doi: 10.3390/genes14030720
pmc: PMC10048300
pii:
doi:
Substances chimiques
DNA, Mitochondrial
0
Types de publication
Case Reports
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Déclaration de conflit d'intérêts
The authors declare no conflict of interest.
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