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

Nuclear Export Mediator Factor

Alternative Names Anazi et al. (2016) analyzed 337 Intellectual NEMF Disability (ID) patients and found genomic tools to Serologically Defined Colon Cancer Antigen 1 have a higher diagnostic yield than standard clinical SDCCAG1 evaluations. By using exome sequencing the NY-CO-1 authors found a homozygous truncating NEMF gene mutation (c.1235_1236insC, Record Category p.Pro413Serfs*10) in a 7 year old Saudi girl and her Gene locus sister who both suffered from ID, global developmental delay and hypotonia. Another WHO-ICD homozygous truncating NEMF mutation N/A to gene loci (c.2517_2520del, p.Gly841Argfs*27) was found in a 12 year old Egyptian girl and her 10 year old Incidence per 100,000 Live Births brother. Both siblings suffered from severe ID, N/A to gene loci developmental delay, autism and abnormal epileptogenic activity on EEG. The mutations were OMIM Number considered pathogenic as they occurred in a gene 608378 that interacts with MECP2 (known to be associated with neurodevelopmental disorders), were loss-of Mode of Inheritance function variants, had a minor allele frequency N/A to gene loci <0.001 based on 1500 Saudi exomes, fully segregated with the phenotype and there were no Gene Map Locus other candidate variants. 14q21.3 Egypt Description [See Saudi Arabia > Anazi et al., 2016] The NEMF gene encodes a protein that forms a component of the ribosome quality control References complex. By recognizing an exposed, nascent Anazi S, Maddirevula S, Faqeih E, Alsedairy H, chain-conjugated tRNA moiety, the NEMF protein Alzahrani F, Shamseldin HE, Patel N, Hashem M, is responsible for the selective recognition and Ibrahim N, Abdulwahab F, Ewida N, Alsaif HS, Al ubiquitination of stalled 60s subunits by the Sharif H, Alamoudi W, Kentab A, Bashiri FA, ubiquitin ligase listerin. Further, as the name Alnaser M, AlWadei AH, Alfadhel M, Eyaid W, suggests, NEMF indirectly plays a role in nuclear Hashem A, Al Asmari A, Saleh MM, AlSaman A, export. Alhasan KA, Alsughayir M, Al Shammari M, Mahmoud A, Al-Hassnan ZN, Al-Husain M, Molecular Genetics Osama Khalil R, Abd El Meguid N, Masri A, Ali R, The NEMF gene is located on chromosome 14 at Ben-Omran T, El Fishway P, Hashish A, Ercan the position 14q21.3. The gene spans a length of 71 Sencicek A, State M, Alazami AM, Salih MA, kb and consists of 37 exons. The protein encoded Altassan N, Arold ST, Abouelhoda M, Wakil SM, by NEMF has a molecular mass of 122.9 kDa and Monies D, Shaheen R, Alkuraya FS. Clinical is made up of 1076 amino acids. Multiple isoforms genomics expands the morbid genome of of the NEMF protein exist due to alternative intellectual disability and offers a high diagnostic splicing. The gene is found to be expressed in the yield. Mol Psychiatry. 2016 Jul 19. PMID: brain, heart, liver, lung, spleen and skeletal muscle. 27431290.

Epidemiology in the Arab World Related CTGA Records Saudi Arabia

External Links Contributors https://www.genecards.org/cgi- Sayeeda Hana bin/carddisp.pl?gene=NEMF 19.01.2017