In this article, we report on a Brazilian female patient born to consanguineous parents and presenting with alobar holoprosencephaly, severe eye involvement, and unusual skin hyperpigmented lesions. She was found to have a mutation (c.2240T > C; p.Val751Gly) in exon 15 of the gene. Mutations in this gene are associated with the nevoid basal cell carcinoma syndrome (NBCCS, OMIM 109400) and, in other instances, with holoprosencephaly (holoprosencephaly-7, OMIM 610828). Severe eye involvement ranging from orbital coloboma to microphthalmia has been seldom reported in patients with NBCCS with mutations. To our knowledge, this is the first report of an individual with central nervous system, skin, and eye manifestations due to a mutation. Mechanisms involved in these multisystem manifestations are discussed.
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| http://dx.doi.org/10.1055/s-0036-1588028 | DOI Listing |
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