Chromosome 19p13.3 deletion in a child with peutz-jeghers syndrome, congenital heart defect, high myopia, learning difficulties and dysmorphic features: clinical and molecular characterization of a new contiguous gene syndrome

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Chromosome 19p13.3 deletion in a child with Peutz-Jeghers syndrome, congenital heart defect, high myopia, learning difficulties and dysmorphic features: Clinical and molecular characterization of a new contiguous gene syndrome
Josiane Souza1, Fábio Faucz1, Vanessa Sotomaior1, Aguinaldo Bonalumi Filho1, Jill Rosenfeld2 and Salmo Raskin1,3 Núcleo de Investigação Molecular Avançada, Programa de Pós-Graduação em Ciências da Saúde, Centro de Ciencias Biológicas e da Saúde, Pontificia Universidade Catolica do Paraná, Curitiba, PR, Brazil. 2 Signature Genomics, Spokane, Washington, USA. 3 GENETIKA – Centro de Aconselhamento e Laboratorio de Genetica, Curitiba, PR, Brazil. Abstract
The Peutz-Jeghers syndrome (PJS) is an autosomal-dominant hamartomatous polyposis syndrome characterized by mucocutaneous pigmentation, gastrointestinal polyps and the increased risk of multiple cancers. The causative point mutation in the STK11 gene of most patients accounts for about 30% of the cases of partial and complete gene deletion. This is a report on a girl with PJS features, learning difficulties, dysmorphic features and cardiac malformation, bearing a de novo 1.1 Mb deletion at 19p13.3. This deletion encompasses at least 47 genes, including STK11. This is the first report on 19p13.3 deletion associated with a PJS phenotype, as well as other atypical manifestations, thereby implying a new contiguous gene syndrome. Key words: 19p13.3 deletion, comparative genomic hybridization array, contiguous gene syndrome, Peutz-Jeghers syndrome, STK11 gene. Received: April 15, 2011; Accepted: July 14, 2011.
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The Peutz-Jeghers syndrome (PJS) is a rare autosomal-dominant disease characterized by gastrointestinal polyposis and mucocutaneous pigmentation. It is associated with a predisposition for various types of benign and malignant gastrointestinal and