Down Syndrome Cell Adhesion Molecule

Alternative Names

  • DSCAM
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OMIM Number

602523

NCBI Gene ID

1826

Uniprot ID

O60469

Length

836,160 bases

No. of Exons

33

No. of isoforms

2

Protein Name

Down syndrome cell adhesion molecule

Molecular Mass

222260 Da

Amino Acid Count

2012

Genomic Location

chr21:40,010,998-40,847,157

Gene Map Locus
21q22.2

Description

The DSCAM gene encodes a member of the immunoglobulin superfamily of cell adhesion molecules. Members of this family localize on the surface of cells and help in binding cells to each other or with the extracellular matrix. The DSCAM protein is specifically involved in neuronal self-avoidance, an essential mechanism during arborisation and axon branching, wherein it promotes repulsion between neuronal projections from the same type of cells in order to avoid clumping or fasciculation. By carrying out its function, DSCAM is believed to play a role in several developmental processes of the nervous system such as synapse assembly, dendrite morphogenesis, axon guidance and retina layer formation.

Overexpression or duplication of the DSCAM gene region has been linked to cases of Down Syndrome and Congenital Heart Disease (DSCHD), a condition characterized by mental retardation, characteristic facies and major congenital malformations such as atrioventricular septal defects.

Epidemiology in the Arab World

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Other Reports

Saudi Arabia

Monies et al. (2017) described the genomic landscape of Saudi Arabia based on the findings of 1000 diagnostic panels and exomes. One patient, a 2-year-old male, presented with growth retardation, short stature, microcephaly, fine/gross motor delay, speech delay, intellectual disability and seizures. Using whole exome sequencing, a homozygous mutation (c.4132+2T>A) was identified in exon 23 of the patient’s DSCAM gene. This gene mutation was considered a candidate for pathogenicity as it was a novel potentially truncating variant, and the gene had a well-established role in axon development. Further studies are required to independently confirm this association.

United Arab Emirates

Hildebrandt et al. 2021 described a 15-month-old girl of Emirati/Indian origin with global developmental delay, hypotonia, nystagmus and cortical visual impairment. Chromosomal microarray revealed a homozygous deletion of 1140 kb at 21q22.2. This deletion — Arr[GRCh37] 21q22.2(40892962_42032996)x0 — encompasses a region that includes four genes (B3GALT5, IGSF5, PCP4, & DSCAM) and a micro RNA(MIR4760). The patient’s parents were consanguineous and heterozygous for the 1140kb deletion.

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