Alternative name(s) : Intellectual developmental disorder, autosomal dominant 33\; MRD33
Gene_locus : human-DPP6
Mutation : 3 mutations M385L_human-DPP6 336kbDel_human-DPP6 362kbDel_human-DPP6
Comment
( From OMIM) A missense mutation in the DPP6 gene (M385L\; 126141.0002) was identified in a family segregating microcephaly and autosomal dominant mental retardation. Also in a 12-year-old boy (BY0712) and a 15-year-old girl (BY2018) with microcephaly and mental retardation (MRD33\; 616311), Liao et al. (2013) identified a de novo heterozygous 336 and 362 kb deletion covering only the DPP6 gene. In mice, knockdown of Dpp6 using short hairpin RNA (shRNA) resulted in smaller brains and learning disabilities compared to wildtype littermates.| Title : The effect of double filtration plasmapheresis and corticosteroids on patients with anti-dipeptidyl-peptidase-like protein 6 encephalitis - Wan_2023_Ther.Apher.Dial__ |
| Author(s) : Wan W , Pan Y , Chen Y , Bai S , Yao X , Lin Y , Wu J , Ni L , Mei Y , Qiu H , Zhou Y , Hao Y , Guan Y |
| Ref : Ther Apher Dial , : , 2023 |
| Abstract : Wan_2023_Ther.Apher.Dial__ |
| ESTHER : Wan_2023_Ther.Apher.Dial__ |
| PubMedSearch : Wan_2023_Ther.Apher.Dial__ |
| PubMedID: 37461148 |
| Gene_locus related to this paper: human-DPP6 |
| Title : Case report: Pain in anti-DPPX encephalitis - Bjerknes_2022_Front.Neurol_13_1091688 |
| Author(s) : Bjerknes TL , Steihaug OM , Haugen M , Hjelland IE , Vedeler CA |
| Ref : Front Neurol , 13 :1091688 , 2022 |
| Abstract : Bjerknes_2022_Front.Neurol_13_1091688 |
| ESTHER : Bjerknes_2022_Front.Neurol_13_1091688 |
| PubMedSearch : Bjerknes_2022_Front.Neurol_13_1091688 |
| PubMedID: 36588910 |
| Gene_locus related to this paper: human-DPP6 |
| Title : Loss-of-function variation in the DPP6 gene is associated with autosomal dominant microcephaly and mental retardation - Liao_2013_Eur.J.Med.Genet_56_484 |
| Author(s) : Liao C , Fu F , Li R , Yang WQ , Liao HY , Yan JR , Li J , Li SY , Yang X , Li DZ |
| Ref : Eur Journal of Medical Genetics , 56 :484 , 2013 |
| Abstract : Liao_2013_Eur.J.Med.Genet_56_484 |
| ESTHER : Liao_2013_Eur.J.Med.Genet_56_484 |
| PubMedSearch : Liao_2013_Eur.J.Med.Genet_56_484 |
| PubMedID: 23832105 |
| Gene_locus related to this paper: human-DPP6 |