ALG13-Gen
Das ALG13-Gen wurde wurde mit der Entwicklung der FSGS in Zusammenhang gebracht. Allerdings sind diese Beobachtungen noch nicht unabhängig bestätigt worden.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
de Ligt J et al. (2012) Diagnostic exome sequencing in persons with severe intellectual disability.
|
2. |
Esposito T et al. (2013) Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene.
|
3. |
Gao XD et al. (2005) Alg14 recruits Alg13 to the cytoplasmic face of the endoplasmic reticulum to form a novel bipartite UDP-N-acetylglucosamine transferase required for the second step of N-linked glycosylation.
|
4. |
Averbeck N et al. (2007) Membrane topology of the Alg14 endoplasmic reticulum UDP-GlcNAc transferase subunit.
|
5. |
Timal S et al. (2012) Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.
|
6. |
et al. (2013) De novo mutations in epileptic encephalopathies.
|
7. |
Michaud JL et al. (2014) The genetic landscape of infantile spasms.
|
8. |
Dimassi S et al. (2016) Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.
|
9. |
NCBI article
NCBI 79868
|
10. |
OMIM.ORG article
Omim 300776
|
11. |
Orphanet article
Orphanet ID 327338
|
Update: 14. August 2020