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

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Centre for Arab Genomic Studies A Division of Sheikh Hamdan Award for Medical Sciences The atalogue for ransmission enetics in rabs C T G A CTGA Database G Protein-Coupled Receptor 103 Alternative Names particularly in the hypothalamus, trigeminal ganglia GPR103 and vestibular neurons. SP9155 AQ27 Epidemiology in the Arab World QRFPR Saudi Arabia Anazi et al. (2016) studied a cohort of 337 Record Category Intellectual Disability (ID) patients to determine the Disease phenotype effectiveness of genomic tools as a diagnostic test. Gene locus It was found that the genomic approach had a higher diagnostic yield than standard clinical WHO-ICD evaluations (58% vs 16%). By using exome N/A to gene loci sequencing, a homozygous c.373C>T (p.Gln125*) mutation was uncovered in the QRFPR gene of a 9 Incidence per 100,000 Live Births year old Saudi boy. The child was born to first- N/A to gene loci degree consanguineous parents and suffered from global developmental delay, ADHD, microcephaly OMIM Number and facial dysmorphia. The authors noted that in 606925 ADHD rat model studies, the Qrfpr gene has been found to be downregulated in the prefrontal cortex. Mode of Inheritance Further, the identified mutation was suggested to be N/A to gene loci pathogenic as it was a loss-of-function variant, had a minor allele frequency <0.001 based on 1500 Gene Map Locus Saudi exomes, fully segregated with the phenotype 4q27 and there were no other candidate variants. Description References The QRFPR gene encodes the G-protein coupled Anazi S, Maddirevula S, Faqeih E, Alsedairy H, receptor 103 protein. This protein acts as a receptor Alzahrani F, Shamseldin HE, Patel N, Hashem M, for the orexigenic neuropeptide QRFP. Like other Ibrahim N, Abdulwahab F, Ewida N, Alsaif HS, Al G-protein coupled receptors, the QRFPR protein Sharif H, Alamoudi W, Kentab A, Bashiri FA, contains 7 transmembrane domains and is an Alnaser M, AlWadei AH, Alfadhel M, Eyaid W, integral component of the plasma membrane. It Hashem A, Al Asmari A, Saleh MM, AlSaman A, carries out its receptor activity and transduces Alhasan KA, Alsughayir M, Al Shammari M, extracellular signals through heterotrimeric G Mahmoud A, Al-Hassnan ZN, Al-Husain M, proteins. The protein plays an important role in the Osama Khalil R, Abd El Meguid N, Masri A, Ali R, cellular response to hormone stimulus. Ben-Omran T, El Fishway P, Hashish A, Ercan Sencicek A, State M, Alazami AM, Salih MA, Molecular Genetics Altassan N, Arold ST, Abouelhoda M, Wakil SM, The QRFPR gene is located on the long arm of Monies D, Shaheen R, Alkuraya FS. Clinical chromosome 4. It spans a length of about 53.8 kb of genomics expands the morbid genome of DNA and its coding sequence is spread across 7 intellectual disability and offers a high diagnostic exons. The protein encoded by the QRFPR gene is yield. Mol Psychiatry. 2016 Jul 19. PMID: 49 kDa in mass and consists of 431 amino acids. 27431290. The gene is found to be expressed in the retina, heart, kidney, testis and thyroid. However, highest Related CTGA Records expression of the gene is seen in the brain, External Links Copyright © Centre for Arab Genomic Studies 1 https://www.genecards.org/cgi- Contributors bin/carddisp.pl?gene=QRFPR Sayeeda Hana 22.01.2017 Copyright © Centre for Arab Genomic Studies 2 .

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