Table 1 Main candidate genes in the proximal and distal regions that contribute to the common clinical manifestations of 1p36 deletion syndrome

MMP23B^a

Metallopeptidase that is involved in bone matrix resorption and bone remodeling. Expressed in the cranial sutures

Large, late-closing anterior fontanel; Craniosynostosis (in duplications)

Chr1: 1,567,560–1,570,030

(Distal Region)

[31, 32]

GABRD^a

Subunit of a pentameric ligand-gated chloride channel that is activated by GABA

Neurodevelopmental abnormalities, neuropsychiatric problems, seizures

Chr1: 1,950,768–1,962,192

(Distal Region)

[31]

SKI^a

Protein that acts as a transcriptional co-regulator. Involved in neural tube development and muscle differentiation

Developmental delay, intellectual disability, seizures, orofacial clefting, congenital heart defects

Chr1: 2,160,134–2,241,652

(Distal Region)

[15, 31, 32]

PRDM16^a

Zinc finger transcription factor. Interacts physically with SKI to inhibit transforming growth factor- β signaling

Left ventricular non-compaction, dilated cardiomyopathy

Chr1: 2,985,742–3,355,185

(Distal Region)

[31]

KCNAB2^a,b

Auxiliary protein that alters the properties of functional potassium voltage-gated alpha subunits which are implicated in regulating neurotransmitter release, heart rate, neuronal excitability, smooth muscle contraction and cell volume

Developmental delay, intellectual disability, seizures


Chr1: 6,052,358–6,161,253

(Distal Region)

[31, 32]

CHD5^a,b

Tumor suppressor gene. Encodes a neuron-specific protein, involved in chromatin remodeling and gene transcription, regulating the expression of neuronal genes

Intellectual disability

Neuroblastoma

Chr1: 6,161,847–6,240,194

(Distal Region)

[5, 15, 31]

HES3^b

Hes family bHLH transcription factor 3 implicated in the oculomotor nerve development

Oculomotor alterations,

Duane Retraction Syndrome, probably

Chr1: 6,244,179–6,245,578

(Between Distal and Proximal Regions)

[27]

RERE^b

Widely expressed nuclear receptor co-regulator. Reported to play a critical role in early cardiovascular development

Short stature, developmental delay, intellectual disability, brain anomalies, vision problems, hearing loss, renal anomalies, congenital heart defects, cardiomyopathy

Chr1: 8,412,464–8,877,699

(Between Distal and Proximal Region)

[15, 31]

UBE4B^b,c

Ubiquitination factor that is involved in multiubiquitin chain assembly

Cardiomyopathy and neurodevelopmental phenotypes

Chr1: 10,093,041–10,241,297

(Proximal Region)

[31]

CASZ1^b,c

Zinc finger transcription factor that is highly expressed in the heart

Congenital heart defects and cardiomyopathy

Chr1: 10,696,666–10,856,733

(Proximal Region)

[31]

PDPN

Integral membrane glycoprotein, which is preferentially expressed in the vascular endothelium

Congenital heart defects, cardiomyopathy

Chr1: 13,910,252–13,944,452

(Out of proximal region)

[31]

SPEN

Transcriptional repressor that may function as a nuclear matrix platform that organizes and integrates transcriptional responses

Congenital heart defects, cardiomyopathy, short stature, neurodevelopmental phenotypes

Chr1: 16,174,359–16,266,950

(Out of proximal region)

[31]

ECEI

Metalloprotease that is involved in the proteolytic processing of endothelin precursors to biologically active peptides

Congenital heart defects

Chr1: 21,543,740–21,672,034

(Out of proximal region)

[31]

HSPG2

Large multidomain heparan sulfate proteoglycan of the extracellular matrix that binds to various basement membrane proteins

Cleft palate, congenital heart defects

Chr1: 22,148,737–22,263,750

(Out of proximal region)

[31]

LUZPI

Leucine zipper protein 1 gene

Congenital heart defects, cleft palate, brain anomalies

Chr1: 23,410,516–23,495,3518

(Out of proximal region)

[31]