Centre for Arab Genomic Studies a Division of Sheikh Hamdan Award for Medical Sciences

Centre for Arab Genomic Studies A Division of Sheikh Hamdan Award for Medical Sciences

The Catalogue for Transmission Genetics in Arabs CTGA Database

Contactin 5

Alternative Names Saudi Arabia CNTN5 Monies et al. (2017) discussed the findings of 1000 NB2 diagnostic panels and exomes carried out at a next generation sequencing lab in Saudi Arabia. One Record Category patient, a 4-year-old female from a consanguineous Gene locus family, presented with fine motor delay, speech delay, intellectual disability, learning disability, WHO-ICD developmental regression, hypertonia, tonic N/A to gene loci seizures, spasticity and cerebellar atrophy. Using whole exome sequencing, a heterozygous mutation Incidence per 100,000 Live Births (c.1955T>G, p.I652R) was identified in exon 15 of N/A to gene loci the patient’s CNTN5 gene. This gene mutation was considered a candidate for pathogenicity as it was a OMIM Number novel variant that was predicted to be deleterious, 607219 and the gene was suggested to play a role in neuronal development. The authors noted that Mode of Inheritance further studies are required to independently N/A to gene loci confirm this association.

Gene Map Locus References 11q22.1 Monies D, Abouelhoda M, AlSayed M, Alhassnan Z, Alotaibi M, Kayyali H, Al-Owain M, Shah A, Description Rahbeeni Z, Al-Muhaizea MA, Alzaidan HI, The CNTN5 gene encodes contactin 5, a member of Cupler E, Bohlega S, Faqeih E, Faden M, Alyounes the immunoglobulin/fibronectin superfamily of B, Jaroudi D, Goljan E, Elbardisy H, Akilan A, adhesion molecules. CNTN5 is a Albar R, Aldhalaan H, Gulab S, Chedrawi A, Al glycosylphosphatidylinositol (GPI)-anchored Saud BK, Kurdi W, Makhseed N, Alqasim T, El neuronal membrane protein and like other Khashab HY, Al-Mousa H, Alhashem A, Kanaan I, contactins, it mediates cell surface interactions Algoufi T, Alsaleem K, Basha TA, Al-Murshedi F, during nervous system development. While the Khan S, Al-Kindy A, Alnemer M, Al-Hajjar S, exact function of CNTN5 is yet to be fully Alyamani S, Aldhekri H, Al-Mehaidib A, Arnaout characterized, its paralogs contactin 1 and contactin R, Dabbagh O, Shagrani M, Broering D, Tulbah M, 2 are known to be involved in neural cell migration, Alqassmi A, Almugbel M, AlQuaiz M, Alsaman A, axon guidance and myelin subdomain organization. Al-Thihli K, Sulaiman RA, Al-Dekhail W, Alsaegh A, Bashiri FA, Qari A, Alhomadi S, Alkuraya H, Molecular Genetics Alsebayel M, Hamad MH, Szonyi L, Abaalkhail F, The CNTN3 gene, located on the long arm of Al-Mayouf SM, Almojalli H, Alqadi KS, Elsiesy H, chromosome 11, spans a length of 1337.9 kb of Shuaib TM, Seidahmed MZ, Abosoudah I, Akleh DNA. Its coding sequence is spread across 27 H, AlGhonaium A, Alkharfy TM, Al Mutairi F, exons and it encodes a 120.6 kDa protein product Eyaid W, Alshanbary A, Sheikh FR, Alsohaibani consisting of 1100 amino acids. The gene is mainly FI, Alsonbul A, Al Tala S, Balkhy S, Bassiouni R, expressed in the cerebellum, amygdala, thalamus, Alenizi AS, Hussein MH, Hassan S, Khalil M, frontal lobe, temporal lobe and occipital lobe of the Tabarki B, Alshahwan S, Oshi A, Sabr Y, brain. Alsaadoun S, Salih MA, Mohamed S, Sultana H, Tamim A, El-Haj M, Alshahrani S, Bubshait DK, Epidemiology in the Arab World Alfadhel M, Faquih T, El-Kalioby M, Subhani S,

Shah Z, Moghrabi N, Meyer BF, Alkuraya FS. The External Links landscape of genetic diseases in Saudi Arabia based http://www.genecards.org/cgi- on the first 1000 diagnostic panels and exomes. bin/carddisp.pl?gene=CNTN5 Hum Genet. 2017 Aug;136(8):921-939. PMID: 28600779. Contributors Sayeeda Hana Related CTGA Records 03.08.2017