Congenital disorder of glycosylation 1N is an autosomal recessive disorder. It is caused by mutations of the RFT1 gene.
Congenital disorder of glycosylation | ||||
Congenital disorder of glycosylation 1A | ||||
Congenital disorder of glycosylation 1L | ||||
Congenital disorder of glycosylation 1N | ||||
RFT1 | ||||
Gillessen-Kaesbach-Nishimura syndrome | ||||
1. |
Haeuptle MA et al. (2008) Human RFT1 deficiency leads to a disorder of N-linked glycosylation. |
2. |
Vleugels W et al. (2009) RFT1 deficiency in three novel CDG patients. |
3. |
Jaeken J et al. (2009) RFT1-CDG: deafness as a novel feature of congenital disorders of glycosylation. |
4. |
Ondruskova N et al. (2012) RFT1-CDG in adult siblings with novel mutations. |
5. |
Imtiaz F et al. (2000) Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1. |
7. |
None (2006) Congenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defects. |
8. |
OMIM.ORG article Omim 612015 |
9. |
Orphanet article Orphanet ID 244310 |