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Megalencephaly with cutis tri\u2010color of the Blaschko\u2010linear type pigmentary mosaicism and intellectual disability is a rare neurodevelopmental disorder attributed to the recurrent mosaic c.5930C\u2009&gt;\u2009T (p.Thr1977Ile) <jats:italic>MTOR<\/jats:italic> variant. This variant was previously reported at low to intermediate levels of mosaicism in the peripheral blood of three unrelated individuals with consistent clinical findings. We report a fourth case of a 3\u2010year\u2010old female presenting with megalencephaly, obstructive hydrocephalus due to cerebral aqueductal stenosis, asymmetric polymicrogyria, dysgenesis of the corpus callosum, hypotonia, developmental delay, and cutaneous pigmentary mosaicism. Oligonucleotide and SNP chromosomal microarray (CMA), karyotype, and trio whole exome sequencing (WES) in the peripheral blood, as well as a targeted gene variant panel from fibroblasts derived from hyperpigmented and non\u2010hyperpigmented skin did not detect any abnormalities in <jats:italic>MTOR<\/jats:italic> or other genes associated with brain overgrowth syndromes. Unlike the previously reported cases, the de novo c.5930C\u2009&gt;\u2009T (p.Thr1977Ile) <jats:italic>MTOR<\/jats:italic> variant was detected at 32% mosaicism in our patient only after WES was performed on fibroblast\u2010derived DNA from the hyperpigmented skin. This case demonstrates the tissue variability in mosaic expression of the recurrent p.Thr1977Ile <jats:italic>MTOR<\/jats:italic> variant, emphasizes the need for skin biopsies in the genetic evaluation of patients with skin pigmentary mosaicism, and expands the clinical phenotype associated with this pathogenic <jats:italic>MTOR<\/jats:italic> variant.<\/jats:p>","DOI":"10.1002\/ajmg.a.61007","type":"journal-article","created":{"date-parts":[[2018,12,20]],"date-time":"2018-12-20T07:50:54Z","timestamp":1545292254000},"page":"475-479","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Recurrent mosaic <i>MTOR<\/i> c.5930C &gt; T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature"],"prefix":"10.1002","volume":"179","author":[{"given":"Maureen","family":"Handoko","sequence":"first","affiliation":[{"name":"Department of 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