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Immunol."],"abstract":"<jats:p>Ch\u00e9diak-Higashi syndrome (CHS) is a rare autosomal recessive (AR) immune disorder that has usually been associated to missense, nonsense or indels mutations in the <jats:italic>LYST<\/jats:italic> gene. In this study, we describe for the first time the case of a CHS patient carrying a homozygous mutation in the <jats:italic>LYST<\/jats:italic> gene inherited as a result of a partial uniparental isodisomy (UPiD) of maternal origin. Sanger sequencing of the <jats:italic>LYST<\/jats:italic> 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 <jats:italic>LYST<\/jats:italic> gene resulting in a premature stop codon and leading to the loss of all the conserved domains at the C-terminal 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.<\/jats:p>","DOI":"10.3389\/fimmu.2021.625591","type":"journal-article","created":{"date-parts":[[2021,3,31]],"date-time":"2021-03-31T06:13:12Z","timestamp":1617171192000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":8,"title":["Case Report: Partial Uniparental Disomy Unmasks a Novel Recessive Mutation in the LYST Gene in a Patient With a Severe Phenotype of Ch\u00e9diak-Higashi 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