A deep intronic variant is a common cause of OTC deficiency in individuals with previously negative genetic testing.
Mol Genet Metab Rep
; 26: 100706, 2021 Mar.
Article
de En
| MEDLINE
| ID: mdl-33489762
ABSTRACT
Pathogenic variants in non-coding regions of genes encoding enzymes or transporters of the urea cycle can lead to urea cycle disorders (UCDs). However, not all commercially available testing platforms interrogate these regions. Here, we used a gene panel based on massively parallel sequencing (MPS) in 10 individuals with clinical or pedigree-based evidence of a proximal UCD but without a molecular confirmation of the diagnosis. We identified causal variant(s) in 5 of 10 individuals, including in 3 of 7 individuals in whom prior molecular testing was unrevealing. We show that a deep-intronic pathogenic variant in OTC, c.540+265G>A, is an important cause of ornithine transcarbamylase (OTC) deficiency.
Texte intégral:
1
Collection:
01-internacional
Base de données:
MEDLINE
Langue:
En
Journal:
Mol Genet Metab Rep
Année:
2021
Type de document:
Article
Pays d'affiliation:
États-Unis d'Amérique