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Title: Severe phenotype in MPS II patients associated with a large deletion including contiguous genes
Authors: Brusius-Facchin, Ana Carolina
Moura de Souza, Carolina Fischinger
Schwartz, Ida Vanessa D.
Riegel, Mariluce
Melaragno, Maria Isabel [UNIFESP]
Correia, Patricia
Moraes, Lucia Marques
Llerena, Juan
Giugliani, Roberto
Leistner-Segal, Sandra
Hosp Clin
Univ Fed Rio Grande do Sul
Universidade Federal de São Paulo (UNIFESP)
Fiocruz MS
Keywords: mucopolysaccharidosis II
hunter syndrome
mutation analysis
Issue Date: 1-May-2012
Publisher: Wiley-Blackwell
Citation: American Journal of Medical Genetics Part A. Malden: Wiley-Blackwell, v. 158A, n. 5, p. 1055-1059, 2012.
Abstract: Hunter disease or mucopolysaccharidosis type II (MPS II) is an X-linked recessive lysosomal disorder caused by the deficiency of iduronate-2-sulfatase, which is involved in the catabolism of the glycosaminoglycans (GAGs) heparan and dermatan sulphate. Our aim was to analyze three patients with severe Hunter syndrome that showed a total deletion of the iduronate-2-sulphatase (IDS) gene, after exon by exon PCR. DNA was used as a template for PCR synthesis of IDS, FRAXA, FRAXE, and DXS1113 specific amplicons. the DNA analysis for all three patients demonstrated a complete deletion of IDS, FRAXA, and FRAXE contiguous genes. We further performed SNP-array to delineate the deletion breakpoints and to characterize the deletion extension in the different patients. the results indicated a similar to 9.4?Mb deletion in Patient 1, a similar to 3.9?Mb deletion of the Xq27.3Xq28 and a similar to 3.1?Mb duplication of the X q28 region in Patient 2 and a similar to 41.8?Kb deletion in Patient 3. SNP-array was shown to be important to map for deletion breakpoints. A comprehensive molecular analysis in patients with Hunter syndrome, especially in the ones presenting the severe form, is important to the understanding of the genetic determinants of the phenotype and for the genetic counseling to be provided to the families. (c) 2012 Wiley Periodicals, Inc.
ISSN: 1552-4825
Appears in Collections:Em verificação - Geral

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