Deletion (1)(p32.2–p32.3) detected by array-CGH in a patient with developmental delay/mental retardation, dysmorphic features and low cholesterol: a new microdeletion syndrome?

dc.creatorMulatinho, Milene
dc.creatorLlerena Junior, Juan Clinton
dc.creatorLeren, Trond P.
dc.creatorRao, P. Nagesh
dc.creatorQuintero-Rivera, Fabiola
dc.date2015-06-08T12:59:00Z
dc.date2015-06-08T12:59:00Z
dc.date2008
dc.date.accessioned2023-09-26T22:28:56Z
dc.date.available2023-09-26T22:28:56Z
dc.identifierMULATINHO, Milene et al. Deletion (1)(p32.2–p32.3) detected by array-CGH in a patient with developmental delay/mental retardation, dysmorphic features and low cholesterol: a new microdeletion syndrome? American Journal of Medical Genetics Part A, v. 146A, n. 17, p. 2284-2290, 2008.
dc.identifier1552-4825
dc.identifierhttps://www.arca.fiocruz.br/handle/icict/10650
dc.identifier10.1002/ajmg.a.32454
dc.identifier.urihttps://repositorioslatinoamericanos.uchile.cl/handle/2250/8879787
dc.descriptionWe report on a 25-year-old male with mental retardation and global developmental delay, low levels of total and LDL cholesterol and dysmorphism, which includes macroce-phaly, 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– p32.3)] 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 PCSK9, a key regulator for a number of cell-surface LDL receptors. In addition to the loss of the paternal allele, our patient is hemizygous for the A443T weak loss-of-function mutation in exon 8 ofPCSK9. Loss-of-function mutations withinPCSK9have been shown to cause hypocholester-olemia. Another gene also mapped to this region and deleted in this patient is DAB1, 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–p32.3), we suggest that these patients may have a new microdeletion syndrome that may have gone undetected because of its location in a G-negative band. However, the condition can easily be identified by array-CGH.
dc.formatapplication/pdf
dc.languageeng
dc.publisherWiley
dc.rightsrestricted access
dc.subjectMental Retardation
dc.subjectGlobal Developmental Delay
dc.subjectOligonucleotide aCGH
dc.subjectSubmicroscopic Chromosome Deletion 1p32
dc.subjectLow Serum Cholesterol
dc.subjectDeficiência Intelectual
dc.subjectOligonucleotídeos
dc.subjectCromossomos
dc.subjectColesterol
dc.titleDeletion (1)(p32.2–p32.3) detected by array-CGH in a patient with developmental delay/mental retardation, dysmorphic features and low cholesterol: a new microdeletion syndrome?
dc.typeArticle


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