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We report the case of a 3.5\u2010year\u2010old boy born from nonconsanguineous parents, presenting with syndromic global developmental delay. Exome sequencing identified a homozygous frameshift pathogenic variant in <jats:italic>LARP7<\/jats:italic>. Parental analysis failed to detect the variant in the paternal sample, although the father's biological paternity was confirmed. Targeted secondary bioinformatic analyses at the <jats:italic>LARP7<\/jats:italic> locus suggested a 45\u2009Mb loss of heterozygosity (LOH), further confirmed by a single nucleotide polymorphism array that identified four LOH regions on chromosome 4, including one encompassing <jats:italic>LARP7.<\/jats:italic> This LOH exposes the recessive <jats:italic>LARP7<\/jats:italic> pathogenic variant, resulting in the manifestation of Alazami syndrome. To our knowledge, this is the first reported case of Alazami syndrome due to uniparental disomy (UPD). UPD is a rare cause of autosomal recessive disorders. Its identification is crucial for genetic counseling to adjust recurrence risk for siblings. This case highlights the effectiveness and usefulness of bioinformatics algorithms applied to next generation sequencing in detecting such events.<\/jats:p>","DOI":"10.1002\/ajmg.a.63891","type":"journal-article","created":{"date-parts":[[2024,10,17]],"date-time":"2024-10-17T11:59:29Z","timestamp":1729166369000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Exome Sequencing Detects Uniparental Disomy of Chromosome 4 Revealing a <scp><i>LARP7<\/i><\/scp> Pathogenic Variant Responsible for Alazami Syndrome: A Case Report"],"prefix":"10.1002","volume":"197","author":[{"given":"Am\u00e9lie","family":"Buisine\u2010Sbraggia","sequence":"first","affiliation":[{"name":"Genetic, Genomic and Procreation Department Grenoble Alpes University Hospital  Grenoble France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julien","family":"Thevenon","sequence":"additional","affiliation":[{"name":"Genetic, Genomic 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