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

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]