Mental retardation, autosomal dominant 33

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

OMIM : 126141 , 616311

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.

References (3)

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
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
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
PubMedID: 23832105
Gene_locus related to this paper: human-DPP6