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Case report : partial uniparental disomy unmasks a novel recessive mutation in the LYST gene in a patient with a severe phenotype of Chediak-Higashi Syndrome


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Título : Case report : partial uniparental disomy unmasks a novel recessive mutation in the LYST gene in a patient with a severe phenotype of Chediak-Higashi Syndrome
Otros títulos: Partial uniparental disomy unmasks a novel recessive mutation in the LYST gene in a patient with a severe phenotype of Chediak-Higashi Syndrome
Autor : Boluda Navarro, Mireia.
Ibáñez Company, Mariam.
Liquori, Alessandro.
Franco Javara, Clara.
Martínez Gallo, Mónica.
Rodríguez Vega, Héctor.
Materias: Béguez-Chédiak-Higashi syndrome - Diagnosis.Chédiak-Higashi, Síndrome de - Diagnóstico.Enfermedades genéticas - Diagnóstico.Chromosome abnormalities.Sistema inmune - Enfermedades - Diagnóstico.Immune system - Diseases - Diagnosis.Anomalías y malformaciones cromosómicas.Genetic disorders - Diagnosis.
Editorial : Frontiers Media
Citación : Boluda-Navarro, M., Ibáñez, M., Liquori, A., Franco-Jarava, C., Martínez-Gallo, M., Rodríguez-Vega, H. et al. (2021). Case report: partial uniparental disomy unmasks a novel recessive mutation in the LYST gene in a patient with a severe phenotype of Chédiak-Higashi Syndrome. Frontiers in Immunology, vol. 12, art. 625591 (31 mar.). DOI: https://doi.org/10.3389/fimmu.2021.625591
Resumen : Chédiak-Higashi syndrome (CHS) is a rare autosomal recessive (AR) immune disorder that has usually been associated to missense, nonsense or indels mutations in the LYST gene. In this study, we describe for the first time the case of a CHS patient carrying a homozygous mutation in the LYST gene inherited as a result of a partial uniparental isodisomy (UPiD) of maternal origin. Sanger sequencing of the LYST cDNA and single nucleotide polymorphism (SNP)-arrays were performed to identify the causative mutation and to explain the molecular mechanism of inheritance, respectively. Partial-UPiD leads to a copy neutral loss of heterozygosity (CN-LOH) of the telomeric region of chromosome 1 (1q41q44), unmasking the potential effect of the mutation detected. The mutation (c.8380dupT) is an insertion located in exon 32 of the LYST gene resulting in a premature stop codon and leading to the loss of all the conserved domains at the Cterminal of the LYST protein. This would account for the severe phenotype observed. We also reviewed the only two previously reported cases of CHS as a result of a uniparental disomy. In this study, we show that the combination of different strategies, including the use of SNP-arrays, is pivotal to fine-tune the diagnosis of rare AR disorders, such as CHS. Moreover, this case highlights the relevance of uniparental disomy as a potential mechanism of CHS expression in non-consanguineous families.
Descripción : Este artículo se encuentra disponible en la siguiente URL: https://www.frontiersin.org/articles/10.3389/fimmu.2021.625591/full
En este artículo también participan: Jaijo Teresa, Carmen Carreras, Esperanza Such, Ángel Zúñiga, Roger Colobran y José Vicente Cervera.
URI : http://hdl.handle.net/10637/13653
Derechos: http://creativecommons.org/licenses/by/4.0/deed.es
ISSN : 1664-3224 (Electrónico)
Fecha de publicación : 31-mar-2021
Centro : Universidad Cardenal Herrera-CEU
Aparece en las colecciones: Dpto. Ciencias Biomédicas





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