Abstract | BACKGROUND/AIM: RESULTS: In 2 patients, isolated AHC was confirmed, while a patient at risk for metabolic crisis was revealed as the deletion extends to the GK gene. A deletion extending to IL1RAPL1 was confirmed in both patients showing MR. Thus, a good genotype-phenotype correlation was confirmed. CONCLUSIONS: Multiplex ligation-dependent probe amplification analysis is a valuable tool to detect NR0B1 and contiguous gene deletions in patients with AHC. It is especially helpful for IL1RAPL1 deletion detection as no clinical markers for MR are available. Furthermore, multiplex ligation-dependent probe amplification has the advantage to identify female carriers that, depending on the deletion extension, have a high risk of giving birth to children with MR, AHC, glycerol kinase deficiency and Duchenne muscular dystrophy.
|
Authors | Michela Barbaro, Susanne Bens, Andrea Haake, Michael Peter, Jürgen Brämswig, Paul-Martin Holterhus, Juan Pedro Lopez-Siguero, Udo Menken, Monika Mix, Wolfgang G Sippell, Anna Wedell, Felix G Riepe |
Journal | Hormone research in paediatrics
(Horm Res Paediatr)
Vol. 77
Issue 2
Pg. 100-7
( 2012)
ISSN: 1663-2826 [Electronic] Switzerland |
PMID | 22456342
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
|
Copyright | Copyright © 2012 S. Karger AG, Basel. |
Chemical References |
- DAX-1 Orphan Nuclear Receptor
- IL1RAPL1 protein, human
- Interleukin-1 Receptor Accessory Protein
- NR0B1 protein, human
|
Topics |
- Adolescent
- Adrenal Hyperplasia, Congenital
(genetics, metabolism, physiopathology)
- Adrenal Insufficiency
- Adult
- Child
- DAX-1 Orphan Nuclear Receptor
(genetics, metabolism)
- Female
- Gene Deletion
- Genetic Association Studies
- Genetic Carrier Screening
(methods)
- Genetic Diseases, X-Linked
(genetics, metabolism, physiopathology)
- Genetic Loci
- Humans
- Hypoadrenocorticism, Familial
- Infant
- Interleukin-1 Receptor Accessory Protein
(genetics, metabolism)
- Male
- Mental Retardation, X-Linked
(genetics)
- Mothers
- Multiplex Polymerase Chain Reaction
- Nucleic Acid Amplification Techniques
- Oligonucleotide Array Sequence Analysis
- Sweden
|