Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/90834
Type: Artigo de periódico
Title: Phenotypic Variability In A Family With X-linked Adrenoleukodystrophy Caused By The P.trp132ter Mutation [variabilidade Fenotípica Em Uma Família Com Adrenoleucodistrofia Ligada Ao X Causada Pela Mutação P.trp132ter]
Author: Soardi F.C.
Esquiaveto-Aun A.M.
Guerra-Junior G.
de Lemos-Marini S.H.V.
de Mello M.P.
Abstract: X-linked adrenoleukodystrophy (X-ALD) is an inherited disease with clinical heterogeneity varying from presymptomatic individuals to rapidly progressive cerebral ALD forms. This disease is characterized by increased concentration of very long chain fatty acids (VLCFAs) in plasma and in adrenal, testicular and nervous tissues. Affected individuals can be classified in different clinical settings, according to phenotypic expression and age at onset of initial symptoms. Molecular defects in X-ALD individuals usually result from ABCD1 gene mutations. In the present report we describe clinical data and the ABCD1 gene study in two boys affected with the childhood cerebral form that presented with different symptomatic manifestations at diagnosis. In addition, their maternal grandfather had been diagnosed with Addison's disease indicating phenotypic variation for X-ALD within this family. The mutation p.Trp132Ter was identified in bothmale patients; additionally, three females, out of eleven family members, were found to be heterozygous after screening for this mutation. In the present report, the molecular analysis was especially important since one of the heterozygous females was in first stages of pregnancy. Therefore, depending on the fetus outcome, if male and p.Trp132Ter carrier, storage of the umbilical cord blood should be recommended as hematopoietic stem cell transplantation could be considered as an option for treatment in the future. © ABE&Mtodosos direitos reservados.
Editor: 
Rights: aberto
Identifier DOI: 10.1590/S0004-27302010000800013
Address: http://www.scopus.com/inward/record.url?eid=2-s2.0-79951967850&partnerID=40&md5=b657dc1a454a6ced91ce6cde72577b4e
Date Issue: 2010
Appears in Collections:Unicamp - Artigos e Outros Documentos

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