Gene Locus : human-NDRG1
Mode of mutation : Natural mutant
Disease : Hereditary motor and sensory neuropathy, LOM Type
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment : Okamoto et al. (2014) identified a homozygous 6.25-kb duplication on chromosome 8 encompassing exons 6 to 8 of the NDRG1 gene. The intragenic duplication, which was found by array CGH analysis, segregated with the disorder in the family. RT-PCR studies of patient cells showed that the duplication resulted in a nonsense mutation at codon 223 and decreased levels of NDRG1 mRNA
| Title : Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom\/CMT4D - Okamoto_2014_Genet.Med_16_386 |
| Author(s) : Okamoto Y , Goksungur MT , Pehlivan D , Beck CR , Gonzaga-Jauregui C , Muzny DM , Atik MM , Carvalho CM , Matur Z , Bayraktar S , Boone PM , Akyuz K , Gibbs RA , Battaloglu E , Parman Y , Lupski JR |
| Ref : Genet Med , 16 :386 , 2014 |
| Abstract : Okamoto_2014_Genet.Med_16_386 |
| ESTHER : Okamoto_2014_Genet.Med_16_386 |
| PubMedSearch : Okamoto_2014_Genet.Med_16_386 |
| PubMedID: 24136616 |
| Gene_locus related to this paper: human-NDRG1 |