{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,9]],"date-time":"2026-04-09T13:58:28Z","timestamp":1775743108272,"version":"3.50.1"},"reference-count":43,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2013,3,17]],"date-time":"2013-03-17T00:00:00Z","timestamp":1363478400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2013,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Consanguinity is practiced by around one tenth of the world population but its global distribution is far from uniform. In countries where consanguinity is common, a corresponding increase in the frequency of autosomal recessive diseases is usually observed owing to increased risk of homozygosity for ancestral haplotypes (autozygosity or identity by descent) that harbor pathogenic alleles. The burden of these diseases becomes more apparent as the healthcare system makes gains in its fight against communicable diseases in these countries. Recent advances in molecular genetics make it possible to leverage the mechanism by which consanguinity predisposes to the occurrence of autosomal recessive diseases in order to uncover the causal mutations at an efficient and cost\u2010effective way compared to outbred populations. The identification of these mutations at an unprecedented scale has the potential to significantly reshape the practice of clinical genetics in these populations and to offer opportunities for innovative public health policies. This review discusses the impact that new genomic tools have had on a sample patient population and how they can inform future public health policies in ways that might be relevant to other consanguineous populations.<\/jats:p>","DOI":"10.1111\/cge.12131","type":"journal-article","created":{"date-parts":[[2013,3,2]],"date-time":"2013-03-02T06:54:41Z","timestamp":1362207281000},"page":"203-208","source":"Crossref","is-referenced-by-count":38,"title":["Impact of new genomic tools on the practice of clinical genetics in consanguineous populations: the Saudi experience"],"prefix":"10.1111","volume":"84","author":[{"given":"FS","family":"Alkuraya","sequence":"first","affiliation":[{"name":"Department of Genetics King Faisal Specialist Hospital and Research Center  Riyadh Saudi Arabia"},{"name":"Department of Anatomy and Cell Biology College of Medicine, Alfaisal University  Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,3,17]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2001.600201.x"},{"key":"e_1_2_9_3_1","unstructured":"BittlesAH. Consanguineous marriage: current global incidence and its relevance to demographic research. University of Michigan 1990."},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1017\/S0021932099004496"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.2307\/2137601"},{"key":"e_1_2_9_6_1","unstructured":"Clarke A Parsons E. Culture kinship and genes: towards cross\u2010cultural genetics 2011."},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-642-05080-0"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181fbfcc4"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.hdy.6800090"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0906079106"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1186\/gm324"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg978"},{"key":"e_1_2_9_13_1","unstructured":"WHO. Community genetics services: report of a WHO consultation on community genetics in low\u2010and middle\u2010income countries 2010."},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.38982.704931.AE"},{"key":"e_1_2_9_15_1","unstructured":"CIA C. CIA World Factbook 2011."},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.4103\/0256-4947.51726"},{"key":"e_1_2_9_17_1","first-page":"28","article-title":"Regional variations in the prevalence of consanguinity in Saudi Arabia","volume":"2007","author":"El\u2010Mouzan MI","year":"1881","journal-title":"Saudi Med J"},{"key":"e_1_2_9_18_1","volume-title":"A history of the modern Middle East","author":"Cleveland WL","year":"1994"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.4103\/0256-4947.51704"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1094-117"},{"key":"e_1_2_9_21_1","first-page":"627","article-title":"Ethical considerations in the prevention and management of genetic disorders with special emphasis on religious considerations","volume":"23","author":"Albar MA","year":"2002","journal-title":"Saudi Med J"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181ceb95d"},{"key":"e_1_2_9_23_1","article-title":"A clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parents","author":"Wierenga KJ","year":"2012","journal-title":"Genet Med"},{"key":"e_1_2_9_24_1","doi-asserted-by":"crossref","unstructured":"Alkuraya FS. Discovery of rare homozygous mutations from studies of consanguineous pedigrees. Current protocols in human genetics\/editorial board Jonathan L Haines [et al.] 2012: Chapter 6: Unit 6 12.","DOI":"10.1002\/0471142905.hg0612s75"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg3031"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq390"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.06.022"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-011-0964-2"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1503\/cmaj.112-2069"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1186\/gb-2011-12-9-228"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.144105.112"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.04.006"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e318194ee8f"},{"key":"e_1_2_9_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2007.04.009"},{"key":"e_1_2_9_35_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg2007"},{"key":"e_1_2_9_36_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.1.7"},{"key":"e_1_2_9_37_1","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1542\/peds.23.1.195","article-title":"Consanguinity and the etiology of congenital malformations","volume":"23","author":"Schull WJ","year":"1959","journal-title":"Pediatrics"},{"key":"e_1_2_9_38_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1014593404915"},{"key":"e_1_2_9_39_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg754"},{"key":"e_1_2_9_40_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.76"},{"key":"e_1_2_9_41_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.10.720"},{"key":"e_1_2_9_42_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.socscimed.2006.06.031"},{"key":"e_1_2_9_43_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32753"},{"key":"e_1_2_9_44_1","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.3001756"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.12131","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.12131","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T14:49:40Z","timestamp":1696344580000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.12131"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,3,17]]},"references-count":43,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2013,9]]}},"alternative-id":["10.1111\/cge.12131"],"URL":"https:\/\/doi.org\/10.1111\/cge.12131","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,3,17]]}}}