{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T04:34:23Z","timestamp":1789187663575,"version":"build-2803163510"},"reference-count":20,"publisher":"BMJ","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2011,7,22]]},"published-print":{"date-parts":[[2011,9]]},"abstract":"<jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Knobloch syndrome (KS) is a developmental disorder characterised by occipital skull defect, high myopia, and vitreo-retinal degeneration. Although genetic heterogeneity has been suspected, <jats:italic>COL18A1<\/jats:italic> is the only known KS disease gene to date.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>To identify a novel genetic cause of KS in a cohort of Saudi KS patients enrolled in this study.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>When COL18A1 mutation was excluded, autozygosity mapping was combined with exome sequencing.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>In one patient with first cousin parents, <jats:italic>COL18A1<\/jats:italic> was excluded by both linkage and direct sequencing. By filtering variants generated on exome sequencing using runs of autozygosity in this simplex case, the study identified <jats:italic>ADAMTS18<\/jats:italic> as the only gene carrying a homozygous protein altering mutation. It was also shown that <jats:italic>Adamts18<\/jats:italic> is expressed in the lens and retina in the developing murine eye.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>The power of combining exome and autozygome analysis in the study of genetics of autosomal recessive disorders, even in simplex cases, has been demonstrated.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmedgenet-2011-100306","type":"journal-article","created":{"date-parts":[[2011,8,23]],"date-time":"2011-08-23T15:56:30Z","timestamp":1314114990000},"page":"597-601","source":"Crossref","is-referenced-by-count":69,"title":["Identification of <i>ADAMTS18<\/i> as a gene mutated in Knobloch syndrome"],"prefix":"10.1136","volume":"48","author":[{"given":"Mohammed A","family":"Aldahmesh","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arif O","family":"Khan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jawahir Y","family":"Mohamed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hisham","family":"Alkuraya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hala","family":"Ahmed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steve","family":"Bobis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saleh","family":"Al-Mesfer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fowzan S","family":"Alkuraya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2011,8,23]]},"reference":[{"key":"2025101714451324000_48.9.597.1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00473403"},{"key":"2025101714451324000_48.9.597.2","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1002\/ajmg.a.20070","article-title":"Evidence of neuronal migration disorders in Knobloch syndrome: clinical and molecular analysis of two novel families","volume":"119A","author":"Kliemann","year":"2003","journal-title":"Am J Med Genet 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