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Disease Report for: Mental retardation, autosomal dominant 33

Alternative name(s)|Intellectual developmental disorder, autosomal dominant 33; MRD33
Mutation|3 mutations: 336kbDel_human-DPP6, 362kbDel_human-DPP6, M385L_human-DPP6
OMIM: |126141, 616311

( 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: Case report: Pain in anti-DPPX encephalitis
    Bjerknes TL, Steihaug OM, Haugen M, Hjelland IE, Vedeler CA
    Ref: Front Neurol, 13:1091688, 2022 : PubMed


    Title: Loss-of-function variation in the DPP6 gene is associated with autosomal dominant microcephaly and mental retardation
    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 : PubMed


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Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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