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

RFT1, S. Cerevisiae, Homolog of

Alternative Names mental retardation, seizures, myoclonus, hypotonia, RFT1 microcephaly and failure to thrive.

Record Category Molecular Genetics Gene locus The RFT1 gene is located on the short arm of chromosome 3. It spans a length of 59.3 kb of DNA WHO-ICD and its coding sequence is contained within 18 N/A to gene loci exons. The protein product encoded by this gene has a molecular mass of 60.3 kDa and consists of Incidence per 100,000 Live Births 541 amino acids. The gene is found to be N/A to gene loci overexpressed in the heart, lymph nodes and monocyte cells. Homozygous and compound OMIM Number heterozygous mutations in the RFT1 gene are 611908 associated with CDG1N. These are mainly missense variants that result in a non-functioning Mode of Inheritance RFT1 protein. N/A to gene loci Epidemiology in the Arab World Gene Map Locus Saudi Arabia 3p21.1 Monies et al. (2017) examined the findings of 1000 diagnostic panels and exomes carried out at a next Description generation sequencing lab in Saudi Arabia. One The RFT1 gene encodes an enzyme involved in N- patient, a 3-year-old male from a consanguineous linked glycosylation. This is a highly conserved family, presented with congenital microcephaly, process which involves the synthesis and global developmental delay, epilepsy and processing of (N)-linked glycans or hematemesis. Using whole exome sequencing, a oligosaccharides on glycoproteins. It begins with homozygous mutation (c.775+1G>C) was the synthesis of a Man(5)GlcNAc(2)- identified in exon 7 of the patient’s RFT1 gene, dolichylpyrophosphate intermediate on the associated with CDG1N. Given the atypical cytoplasmic side of the endoplasmic reticulum (ER) presentation of the patient, this case helped in the membrane. This intermediate is then translocated to phenotypic expansion of the disorder. the luminal side of the ER membrane. The RFT1 enzyme is responsible for catalyzing this References translocation of Man(5)GlcNAc(2)- Monies D, Abouelhoda M, AlSayed M, Alhassnan dolichylpyrophosphate. Z, Alotaibi M, Kayyali H, Al-Owain M, Shah A, Rahbeeni Z, Al-Muhaizea MA, Alzaidan HI, Mutations in the RFT1 gene hence lead to Cupler E, Bohlega S, Faqeih E, Faden M, Alyounes enzymatic defects in N-linked glycosylation and are B, Jaroudi D, Goljan E, Elbardisy H, Akilan A, associated with Congenital Disorder of Albar R, Aldhalaan H, Gulab S, Chedrawi A, Al Glycosylation, Type In (CDG1N). This metabolic Saud BK, Kurdi W, Makhseed N, Alqasim T, El disorder results in severe developmental delay, Khashab HY, Al-Mousa H, Alhashem A, Kanaan I, Algoufi T, Alsaleem K, Basha TA, Al-Murshedi F,

Khan S, Al-Kindy A, Alnemer M, Al-Hajjar S, landscape of genetic diseases in Saudi Arabia based Alyamani S, Aldhekri H, Al-Mehaidib A, Arnaout on the first 1000 diagnostic panels and exomes. R, Dabbagh O, Shagrani M, Broering D, Tulbah M, Hum Genet. 2017 Aug;136(8):921-939. PMID: Alqassmi A, Almugbel M, AlQuaiz M, Alsaman A, 28600779. Al-Thihli K, Sulaiman RA, Al-Dekhail W, Alsaegh A, Bashiri FA, Qari A, Alhomadi S, Alkuraya H, Related CTGA Records Alsebayel M, Hamad MH, Szonyi L, Abaalkhail F, Congenital Disorder of Glycosylation, Type In Al-Mayouf SM, Almojalli H, Alqadi KS, Elsiesy H, (OMIM 612015) Shuaib TM, Seidahmed MZ, Abosoudah I, Akleh H, AlGhonaium A, Alkharfy TM, Al Mutairi F, External Links Eyaid W, Alshanbary A, Sheikh FR, Alsohaibani http://www.genecards.org/cgi- FI, Alsonbul A, Al Tala S, Balkhy S, Bassiouni R, bin/carddisp.pl?gene=RFT1 Alenizi AS, Hussein MH, Hassan S, Khalil M, Tabarki B, Alshahwan S, Oshi A, Sabr Y, Contributors Alsaadoun S, Salih MA, Mohamed S, Sultana H, Sayeeda Hana Tamim A, El-Haj M, Alshahrani S, Bubshait DK, 22.09.2017 Alfadhel M, Faquih T, El-Kalioby M, Subhani S, Shah Z, Moghrabi N, Meyer BF, Alkuraya FS. The