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Table 1 Genes related to development and function of nervous system within region of 1p36.21-1p36.33 deletion

From: Neuropathology of brain and spinal malformations in a case of monosomy 1p36

Symbol Description Locus Site Mouse ortholog Human diseases Null mouse phenotype Other Refs.
KLHL17 kelch-like 17 (Drosophila) 1p36.33 885,830..890,958 Klhl17    postsynaptic membrane [28]
HES4 Hairy and enhancer of split 4 (Drosophila) 1p36.33 924,207..925,333* **    HES gene family [26, 27]
AGRN Agrin 1p36.33 945,366..981,355 Agrn CMS (AR) reduced NMJ   [29]
SCNN1D sodium channel, nonvoltage-gated 1, delta 1p36.33 1,207,439..1,217,272 **    highly expressed in pyramidal neurons [30]
DVL1 dishevelled, dsh homolog 1 (Drosophila) 1p36.33 1,260,521..1,274,358* Dvl1 SJS (AR), CMT2A (AR) abnormal social interactions   [31, 32]
MXRA8 matrix-remodelling associated 8 1p36.33 1,277,934..1,283,778* Mxra8    glia limitans/BBB [33]
VWA1 von Willebrand factor A domain containing 1 1p36.33 1,360,772..1,366,009 Vwa1   peripheral nerve defects ECM protein [34]
MIB2 Mindbomb homolog 2 (Drosophila) 1p36.33 1,540,747..1,555,848 Mib2   exencephaly ubiquitin ligase for Notch ligands [35]
MMP23B matrix metallopeptidase 23B 1p36.33 1,557,423..1,559,893 Mmp23 cranial suture closure***    [36]
GNB1 guanine nucleotide binding protein (G protein), beta polypeptide 1 1p36.33 1,716,725..1,822,526* Gnb1   micrencephaly, NTDs One of three beta subunits of G proteins [37]
GABRD GABA A receptor, delta 1p36.33 1,940,703..1,952,050 Gabrd epilepsy pro-epileptic   [38]
SKI v-ski sarcoma viral oncogene homolog (avian) 1p36.33 2,149,994..2,229,316 Ski facial clefting*** exencephaly, facial clefting, peripheral nerve myelination defects, PHPV, microphthalmos   [39, 40]
PEX10 peroxisomal biogenesis factor 10 1p36.32 2,326,101..2,333,870* Pex10 ALD (AR), ZS (AR)    [41]
PLCH2 phospholipase C, eta 2 1p36.32 2,397,614..2,426,824 Plch2 Mental retardation   neuron-specific isozyme [42]
HES5 Hairy and enhancer of split 5 (Drosophila) 1p36.32 2,450,044..2,451,544* Hes5   premature neuronal differentiation synergistic with Hes1, Hes3 [26, 27]
TPRG1L tumor protein p63 regulated 1-like 1p36.32 3,531,416..3,536,555 Tprg1l    presynaptic protein [43]
TP73 tumor protein p73 1p36.32 3,558,989..3,639,716 Trp73   Hippocampal, neocortical defects apoptosis [44, 45]
KCNAB2 potassium voltage-gated channel, shaker-related subfamily, beta member 2 1p36.31 6,008,967..6,083,110 Kcnab2   Defects of learning and memory   [46]
CHD5 chromodomain helicase DNA binding protein 5 1p36.31 6,084,440..6,162,770* Chd5    brain development, tumor suppressor gene [47]
HES3 Hairy and enhancer of split 3 (Drosophila) 1p36.31 6,226,849..6,228,225 Hes3   premature differentiation with Hes1, Hes5 [26, 27]
ACOT7 acyl-CoA thioesterase 7 1p36.31 6,246,919..6,376,413* Acot7    MTLE [48]
HES2 Hairy and enhancer of split 2 (Drosophila) 1p36.31 6,397,883..6,402,566* Hes2    expressed in developing nervous system [26, 27]
ESPN Espin 1p36.31 6,407,435..6,443,591 Espn congenital hearing loss (AR, AD) jerker deafness actin bundling [49]
PLEKG5 pleckstrin homology domain containing, family G (with RhoGef domain) member 5 1p36.31 6,448,739..6,502,656* Plekhg lower motor neuron disease (AR)   activates NF kappa B [50]
  1. AD autosomal dominant, ALD adrenoleukodystrophy, AR autosomal recessive, BBB blood–brain barrier, CMS congenital myasthenic syndrome, CMT2Ac Charcot-Marie-Tooth disease type 2A, ECM extracellular matrix, GABA gamma-aminobutyric acid, MTLE mesial temporal lobe epilepsy, NMJ neuromuscular junction, NTD neural tube defect, PHPV persistent hyperplastic primary vitreous, SJS Schwartz-Jampel syndrome, ZS Zellweger syndrome. * complement = minus strand, ** none known, *** putative causative gene.