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http://repositorio.pediatria.gob.mx:8180/handle/20.500.12103/2959| Título : | Wide allelic heterogeneity with predominance of large IDS gene complex rearrangements in a sample of Mexican patients with Hunter syndrome |
| Creador: | Alcántara Ortigoza, Miguel Ángel |
| Nivel de acceso: | Open access |
| Palabras clave : | Mucopolisacaridosis II - genética Mucopolisacaridosis II - patología Púrpura Trombocitopénica Idiopática - genética Púrpura Trombocitopénica Idiopática - patología Enfermedades por Almacenamiento Lisosomal - genética Enfermedades por Almacenamiento Lisosomal - patología Diagnóstico Prenatal Mosaicismo Heterogeneidad Genética Pancitopenia - genética Genotipo Población - genética - México Análisis por Micromatrices Mucopolysaccharidosis II - genetics Mucopolysaccharidosis II - pathology Purpura, Thrombocytopenic, Idiopathic - genetics Purpura, Thrombocytopenic, Idiopathic - pathology Lysosomal Storage Diseases - genetics Lysosomal Storage Diseases - pathology Prenatal Diagnosis Mosaicism Genetic Heterogeneity Pancytopenia - genetics Genotype Population - genetics - Mexico Microarray Analysis AFF2 gene, Microarrays de ADN, Población mexicana, púrpura trombocitopénica idiopática, idursulfasa, enfermedades por almacenamiento lisosomal, Mucopolisacaridosis tipo II, diagnóstico prenatal, somáticos y Mosaicismo germinal AFF2 gene; DNA microarray, Mexican population, idiopathic thrombocytopenic purpura, idursulfase, lysosomal storage disease, mucopolysaccharidosis type II, prenatal diagnosis, somatic and germline mosaicism |
| Descripción : | Hunter syndrome or mucopolysaccharidosis type II (MPSII) is caused by pathogenic variants in the IDS gene. This is the first study that examines the mutational spectrum in 25 unrelated Mexican MPSII families. The responsible genotype was identified in 96% of the families (24/25) with 10 novel pathogenic variants: c.133G>C, c.1003C>T, c.1025A>C, c.463_464delinsCCGTATAGCTGG, c.754_767del, c.1132_1133del, c.1463del, c.508-1G>C, c.1006+1G>T and c.(-217_103del). Extensive IDS gene deletions were identified in four patients; using DNA microarray analysis two patients showed the loss of the entire AFF2 gene, and epilepsy developed in only one of them. Wide allelic heterogeneity was noted, with large gene alterations (e.g. IDS/IDSP1 gene inversions, partial to extensive IDS deletions, and one chimeric IDS-IDSP1 allele) that occurred at higher frequencies than previously reported (36% vs 18.9-29%). The frequency of carrier mothers (80%) is consistent with previous descriptions (>70%). Carrier assignment allowed molecular prenatal diagnoses. Notably, somatic and germline mosaicism was identified in one family, and two patients presented thrombocytopenic purpura and pancytopenia after idursulfase enzyme replacement treatment. Our findings suggest a wide allelic heterogeneity in Mexican MPSII patients; DNA microarray analysis contributes to further delineation of the resulting phenotype for IDS and neighboring loci deletions. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd. |
| Colaborador(es) u otros Autores: | García-De Teresa B González-Del Angel A Berumen J Guardado-Estrada M Fernández-Hernández L Navarrete-Martínez Juana I Maza-Morales M Rius-Domínguez R. |
| Fecha de publicación : | 2016 |
| Tipo de publicación: | Artículo |
| Formato: | |
| Identificador del Recurso : | 10.1111/cge.12738 |
| Fuente: | Clinical Genetics 89(5):574 - 583 |
| URI : | http://repositorio.pediatria.gob.mx:8180/handle/20.500.12103/2959 |
| Idioma: | eng |
| Aparece en las colecciones: | Artículos |
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