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AutorMulatinho, Milene
AutorLlerena Junior, Juan Clinton
AutorLeren, Trond P.
AutorRao, P. Nagesh
AutorQuintero-Rivera, Fabiola
Fecha de acceso2015-06-08T12:59:00Z
Fecha de disponibilización2015-06-08T12:59:00Z
Fecha de publicación2008
ReferenciaMULATINHO, 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.pt_BR
ISSN1552-4825
URIhttps://www.arca.fiocruz.br/handle/icict/10650
Idiomaengpt_BR
EditorWileypt_BR
Derechos de autorrestricted access
TítuloDeletion (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?pt_BR
Tipo del documentoArticle
DOI10.1002/ajmg.a.32454
Resumen en InglésWe 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.pt_BR
AfiliaciónUniversidade Federal do Rio de Janeiro. Rio de Janeiro, RJ, Brasil / UCLA. David Geffen School of Medicine. Department of Pathology and Lab Medicine. Los Angeles, California.pt_BR
AfiliaciónUniversidade Federal do Rio de Janeiro. Rio de Janeiro, RJ, Brasil / Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Rio de Janeiro, RJ, Brasil.pt_BR
AfiliaciónRikshospitalet-Radiumhospitalet Medical Center. Department of Medical Genetics. Medical Genetics Laboratory. Oslo, Norway.pt_BR
AfiliaciónUCLA. David Geffen School of Medicine. Department of Pathology and Lab Medicine. Los Angeles, California.pt_BR
AfiliaciónUCLA. David Geffen School of Medicine. Department of Pathology and Lab Medicine. Los Angeles, California.pt_BR
Palavras clave en InglêsMental Retardationpt_BR
Palavras clave en InglêsGlobal Developmental Delaypt_BR
Palavras clave en InglêsOligonucleotide aCGHpt_BR
Palavras clave en InglêsSubmicroscopic Chromosome Deletion 1p32pt_BR
Palavras clave en InglêsLow Serum Cholesterolpt_BR
DeCSDeficiência Intelectualpt_BR
DeCSOligonucleotídeospt_BR
DeCSCromossomospt_BR
DeCSColesterolpt_BR


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