{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,6]],"date-time":"2025-11-06T19:47:37Z","timestamp":1762458457511},"reference-count":22,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,9,12]],"date-time":"2005-09-12T00:00:00Z","timestamp":1126483200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2005,10,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>An Old Order Mennonite child was evaluated for gross motor delay, truncal ataxia, and slow linear growth. The diagnostic evaluation, which included sub\u2010specialty consultations, neuroimaging, and metabolic testing, was long, costly, and did not yield a diagnosis. Recognition of a similarly affected second cousin prompted a genome\u2010wide homozygosity mapping study using high\u2010density single nucleotide polymorphism (SNP) arrays. SNP genotypes from two affected individuals and their parents were used to localize the disease locus to a 14.9 Mb region on chromosome 6. This region contained 55 genes, including <jats:italic>SLC17A5<\/jats:italic>, the gene encoding the lysosomal <jats:italic>N<\/jats:italic>\u2010acetylneuraminic acid transport protein. Direct sequencing of <jats:italic>SLC17A5<\/jats:italic> in the proband revealed homozygosity for the 115C\u2009\u2192\u2009T (R39C) sequence variant, the common cause of Salla disease in Finland. Three additional affected Mennonite individuals, ages 8 months to 50 years, were subsequently identified by directed molecular genetic testing. This small\u2010scale mapping study was rapid, inexpensive, and analytically simple. In families with shared genetic heritage, genome\u2010wide SNP arrays with relatively high marker density allow disease gene mapping studies to be incorporated into routine diagnostic evaluations. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30961","type":"journal-article","created":{"date-parts":[[2005,9,13]],"date-time":"2005-09-13T00:47:00Z","timestamp":1126572420000},"page":"262-267","source":"Crossref","is-referenced-by-count":23,"title":["Genome\u2010wide SNP arrays as a diagnostic tool: Clinical description, genetic mapping, and molecular characterization of Salla disease in an Old Order Mennonite population"],"prefix":"10.1002","volume":"138A","author":[{"given":"Kevin A.","family":"Strauss","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erik G.","family":"Puffenberger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David W.","family":"Craig","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Corrie B.","family":"Panganiban","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne M.","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diane","family":"Hu\u2010Lince","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dietrich A.","family":"Stephan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D. 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