NGS-Based Diagnosis of Treatable Neurogenetic Disorders in Adults: Opportunities and Challenges.
ATP Binding Cassette Transporter, Subfamily D, Member 1
/ genetics
Adrenoleukodystrophy
/ diagnosis
Adult
Carbohydrate Metabolism, Inborn Errors
/ diagnosis
Cholestanetriol 26-Monooxygenase
/ genetics
Female
Genetic Testing
/ methods
Glucose Transporter Type 1
/ genetics
High-Throughput Nucleotide Sequencing
/ methods
Humans
Male
Middle Aged
Monosaccharide Transport Proteins
/ deficiency
Sequence Analysis, DNA
/ methods
Xanthomatosis, Cerebrotendinous
/ diagnosis
X-linked adrenoleukodystrophy
cerebrotendinous xanthomatosis
glucose transporter type 1 deficiency syndrome
neurogenetic disorders
next-generation sequencing (NGS)
treatable diseases
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
06 05 2021
06 05 2021
Historique:
received:
13
04
2021
revised:
30
04
2021
accepted:
03
05
2021
entrez:
2
6
2021
pubmed:
3
6
2021
medline:
31
8
2021
Statut:
epublish
Résumé
The identification of neurological disorders by next-generation sequencing (NGS)-based gene panels has helped clinicians understand the underlying physiopathology, resulting in personalized treatment for some rare diseases. While the phenotype of distinct neurogenetic disorders is generally well-known in childhood, in adulthood, the phenotype can be unspecific and make the standard diagnostic approach more complex. Here we present three unrelated adults with various neurological manifestations who were successfully diagnosed using NGS, allowing for the initiation of potentially life-changing treatments. A 63-year-old woman with progressive cognitive decline, pyramidal signs, and bilateral cataract was treated by chenodeoxycholic acid following the diagnosis of cerebrotendinous xanthomatosis due to a homozygous variant in
Identifiants
pubmed: 34066437
pii: genes12050695
doi: 10.3390/genes12050695
pmc: PMC8148126
pii:
doi:
Substances chimiques
ABCD1 protein, human
0
ATP Binding Cassette Transporter, Subfamily D, Member 1
0
Glucose Transporter Type 1
0
Monosaccharide Transport Proteins
0
SLC2A1 protein, human
0
CYP27A1 protein, human
EC 1.14.15.15
Cholestanetriol 26-Monooxygenase
EC 1.14.15.15
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Références
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