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Multiplex ligation-...
Multiplex ligation-dependent probe amplification analysis of the NR0B1(DAX1) locus enables explanation of phenotypic differences in patients with X-linked congenital adrenal hypoplasia
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- Barbaro, M (författare)
- Karolinska Institutet
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Bens, S (författare)
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Haake, A (författare)
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Peter, M (författare)
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Bramswig, J (författare)
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Holterhus, PM (författare)
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Lopez-Siguero, JP (författare)
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Menken, U (författare)
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Mix, M (författare)
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Sippell, WG (författare)
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- Wedell, A (författare)
- Karolinska Institutet
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Riepe, FG (författare)
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(creator_code:org_t)
- 2012-03-23
- 2012
- Engelska.
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Ingår i: Hormone research in paediatrics. - : S. Karger AG. - 1663-2826 .- 1663-2818. ; 77:2, s. 100-107
- Relaterad länk:
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https://www.karger.c...
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http://kipublication...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- <i>Background/Aim:</i>X-linked adrenal hypoplasia congenita (AHC) is a rare disorder characterized by primary adrenal insufficiency and hypogonadic hypogonadism. It is caused by deletions or point mutations of the <i>NR0B1 </i>gene, on Xp21. AHC can be associated with glycerol kinase deficiency, Duchenne muscular dystrophy and mental retardation (MR), as part of a contiguous gene deletion syndrome. A synthetic probe set for multiplex ligation-dependent probe amplification analysis was developed to confirm and characterize <i>NR0B1</i> deletions in patients with AHC and to correlate their genotypes with their divergent phenotypes. <i>Results:</i>In 2 patients, isolated AHC was confirmed, while a patient at risk for metabolic crisis was revealed as the deletion extends to the <i>GK</i> gene. A deletion extending to <i>IL1RAPL1</i> was confirmed in both patients showing MR. Thus, a good genotype-phenotype correlation was confirmed. <i>Conclusions:</i>Multiplex ligation-dependent probe amplification analysis is a valuable tool to detect <i>NR0B1</i> and contiguous gene deletions in patients with AHC. It is especially helpful for <i>IL1RAPL1 </i>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.
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- art (ämneskategori)
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Till lärosätets databas
- Av författaren/redakt...
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Barbaro, M
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Bens, S
-
Haake, A
-
Peter, M
-
Bramswig, J
-
Holterhus, PM
-
visa fler...
-
Lopez-Siguero, J ...
-
Menken, U
-
Mix, M
-
Sippell, WG
-
Wedell, A
-
Riepe, FG
-
visa färre...
- Artiklar i publikationen
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Hormone research ...
- Av lärosätet
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Karolinska Institutet