{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T20:01:53Z","timestamp":1759694513881},"reference-count":33,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2012,12,21]],"date-time":"2012-12-21T00:00:00Z","timestamp":1356048000000},"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:p>We report a consanguineous family of three girls and one boy affected with a novel syndrome involving the lens and the basal ganglia. The phenotype is strikingly similar between affected siblings with cognitive impairment, attention deficit hyperactivity disorder (<jats:styled-content style=\"fixed-case\">ADHD<\/jats:styled-content>), microcephaly, growth retardation, congenital cataract, and dystonia. The magnetic resonance imaging showed unusual pattern of swelling of the caudate heads and thinning of the putamina with severe degree of hypometabolism on the [<jats:styled-content style=\"fixed-case\">18F<\/jats:styled-content>] deoxyglucose positron emission tomography. Furthermore, the clinical assessment provides the evidence that the neurological phenotype is very slowly progressive. We utilized the <jats:styled-content style=\"fixed-case\">10K<\/jats:styled-content> single\u2010nucleotide polymorphism (<jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>) microarray genotyping for linkage analysis. Genome\u2010wide scan indicated a 45.9\u2010Mb region with a 4.2353 logarithm of the odds score on chromosome 11. Affymetrix genome\u2010wide human <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content> array 6.0 assay did not show any gross chromosomal abnormality. Targeted sequencing of two candidate genes within the linkage interval (<jats:italic><jats:styled-content style=\"fixed-case\">PAX6<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">B3GALTL<\/jats:styled-content><\/jats:italic>) as well as <jats:styled-content style=\"fixed-case\">mtDNA<\/jats:styled-content> genome sequencing did not reveal any putative mutations.<\/jats:p>","DOI":"10.1111\/cge.12066","type":"journal-article","created":{"date-parts":[[2012,11,27]],"date-time":"2012-11-27T04:48:39Z","timestamp":1353991719000},"page":"258-264","source":"Crossref","is-referenced-by-count":3,"title":["A novel syndrome of abnormal striatum and congenital cataract: evidence for linkage to chromosomes 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