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. 2016 Aug 10;5(3):125–133.

Table 1.

Candidate dosage sensitive genes on chromosome 21causing DS phenotype (11, 23, 24)

Gene Symbol Full Name Location
APP amyloid beta (A4) precursor protein 21q21.2|21q21.3
OLIG1 oligodendrocyte transcription factor 1 21q22.11
OLIG2 oligodendrocyte lineage transcription factor 2 21q22.11
DYRK1A dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A 21q22.13
DSCAM Down syndrome cell adhesion molecule 21q22.2
SYNJ1 synaptojanin 1 21q22.2
JAM2 junctional adhesion molecule 2 21q21.2
SIM2 single-minded homolog 2 (Drosophila) 21q22.2|21q22.13
ERG v-ets avian erythroblastosis virus E26 oncogene homolog 21q22.3
PTTG1IP pituitary tumor-transforming 1 interacting protein 21q22.3
ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif 1 21q21.3
ITSN1 intersectin 1 21q22.1-q22.2
SYNJ11 synaptojanin 1 21q22.2
ERG v-ets avian erythroblastosis virus E26 oncogene homolog 21q22.3
ETS2 ETS proto-oncogene 2, transcription factor 21q22.3
SLC19A1 solute carrier family 19 member 1 21q22.3
COL6A1 collagen type VI alpha 1 21q22.3