Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The ALG9 gene encodes an important enzyme of of glycosylation metabolism. Mutations cause autosomal recessive gycosylation disorder type 1L and Gillessen-Kaesbach-Nishimura syndrome.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Research | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 1. |
Frank CG et al. (2004) Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL. 
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| 2. |
Weinstein M et al. (2005) CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features.
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| 3. |
Tham E et al. (2016) A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.
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| 4. |
Baysal BE et al. (1998) Bipolar affective disorder partially cosegregates with a balanced t(9;11)(p24;q23.1) chromosomal translocation in a small pedigree.
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| 5. |
Baysal BE et al. (2002) A mannosyltransferase gene at 11q23 is disrupted by a translocation breakpoint that co-segregates with bipolar affective disorder in a small family.
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| 6. |
Orphanet article Orphanet ID 119629
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| 7. |
NCBI article NCBI 79796
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| 8. |
OMIM.ORG article Omim 606941
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| 9. |
Wikipedia article Wikipedia EN (ALG9)
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