{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:07:52Z","timestamp":1761718072594},"reference-count":36,"publisher":"Wiley","issue":"17","license":[{"start":{"date-parts":[[2008,8,4]],"date-time":"2008-08-04T00:00:00Z","timestamp":1217808000000},"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":[[2008,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a 25\u2010year\u2010old male with mental retardation and global developmental delay, low levels of total and LDL cholesterol and dysmorphism, which includes macrocephaly, hypertelorism, synophrys, telecanthus, prominent philtrum, low set ears, bilateral cataracts, bilateral cleft lip with cleft palate and widely spaced nipples. While his karyotype and subtelomeric FISH studies were normal, a de novo, 5.4 Mb interstitial deletion at 1p32 [del(1)(p32.2\u2013p32.3)] was identified by oligonucleotide aCGH. The deleted region encompasses a cluster of genes involved in fatty acid oxidation and cholesterol metabolism. One of these genes is <jats:italic>PCSK9<\/jats:italic>, a key regulator for a number of cell\u2010surface LDL receptors. In addition to the loss of the paternal allele, our patient is hemizygous for the A443T weak loss\u2010of\u2010function mutation in exon 8 of <jats:italic>PCSK9<\/jats:italic>. Loss\u2010of\u2010function mutations within <jats:italic>PCSK9<\/jats:italic> have been shown to cause hypocholesterolemia. Another gene also mapped to this region and deleted in this patient is <jats:italic>DAB1<\/jats:italic>, reported to be involved in brain development. Based on the findings in the current patient and in the four previously reported individuals with del(1)(p32.2\u2013p32.3), we suggest that these patients may have a new microdeletion syndrome that may have gone undetected because of its location in a G\u2010negative band. However, the condition can easily be identified by array\u2010CGH. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32454","type":"journal-article","created":{"date-parts":[[2008,8,4]],"date-time":"2008-08-04T18:07:19Z","timestamp":1217873239000},"page":"2284-2290","source":"Crossref","is-referenced-by-count":10,"title":["Deletion (1)(p32.2\u2013p32.3) detected by array\u2010CGH in a patient with developmental delay\/mental retardation, dysmorphic features and low cholesterol: A new microdeletion syndrome?"],"prefix":"10.1002","volume":"146A","author":[{"given":"Milene","family":"Mulatinho","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juan","family":"Llerena","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Trond P.","family":"Leren","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P. 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