Homozygous deletion of the entire AAAS gene in a triple A syndrome patient.
Achalasia
Adrenal insufficiency
Alacrima
Gene deletion
Triple A syndrome
Journal
European journal of medical genetics
ISSN: 1878-0849
Titre abrégé: Eur J Med Genet
Pays: Netherlands
ID NLM: 101247089
Informations de publication
Date de publication:
Jul 2019
Jul 2019
Historique:
received:
05
12
2018
revised:
15
03
2019
accepted:
04
05
2019
pubmed:
10
5
2019
medline:
5
9
2019
entrez:
10
5
2019
Statut:
ppublish
Résumé
Triple A syndrome, a multisystemic autosomal recessive disease, is characterized by the clinical triad of adrenal insufficiency, alacrima and achalasia in combination with progressive neurological impairments. The disorder is caused by homozygous or compound heterozygous mutations in the AAAS gene. Here we present the clinical and molecular data of a ten year old patient with triple A syndrome. Array CGH analysis confirmed the PCR-based assumption of a homozygous deletion of the entire AAAS gene in the patient and a heterozygous deletion in both parents. We demonstrate that the patient carries a 15 kb deletion and identified the 5' and 3' breakpoints outside the AAAS gene. This is the first report of a triple A syndrome patient with a homozygous deletion of the entire AAAS gene.
Identifiants
pubmed: 31071487
pii: S1769-7212(18)30892-9
doi: 10.1016/j.ejmg.2019.05.004
pii:
doi:
Substances chimiques
AAAS protein, human
0
Nerve Tissue Proteins
0
Nuclear Pore Complex Proteins
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
103665Informations de copyright
Copyright © 2019 Elsevier Masson SAS. All rights reserved.