Variable phenotypes associated with 10q23 microdeletions involving the PTEN and BMPR1A genes |
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Authors: | Menko F H Kneepkens C M F de Leeuw N Peeters E A J Van Maldergem L Kamsteeg E J Davidson R Rozendaal L Lasham C A Peeters-Scholte C M P Jansweijer M C Hilhorst-Hofstee Y Gille J J P Heins Y M Nieuwint A W M Sistermans E A |
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Affiliation: | Department of Clinical Genetics;, and Department of Pediatrics, VU University Medical Center, Amsterdam, the Netherlands;, Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands;, Department of Pediatrics, Medical Center Haaglanden, the Hague, the Netherlands;, Centre de Génétique Humaine, Centre Hospitalier Universitaire, Liège, Belgium;, Ferguson-Smith Centre for Clinical Genetics, Yorkhill Hospitals, Glasgow, UK;, Department of Pathology, VU University Medical Center, Amsterdam, the Netherlands;, Department of Pediatrics, Tergooi Hospitals, Blaricum, the Netherlands;, Department of Pediatrics, Academic Medical Center, Amsterdam, the Netherlands;, and Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands |
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Abstract: | Infantile juvenile polyposis is a rare disease with severe gastrointestinal symptoms and a grave clinical course. Recently, 10q23 microdeletions involving the PTEN and BMPR1A genes were found in four patients with infantile juvenile polyposis. It was hypothesized that a combined and synergistic effect of the deletion of both genes would explain the condition. Subsequently, however, a patient with a larger 10q23 deletion including the same genes but with a mild clinical phenotype was identified. Here, we present four additional patients with 10q23 microdeletions involving the PTEN and BMPR1A genes. The sizes of the deletions were analyzed using single nucleotide polymorphism array analysis. All patients had macrocephaly, dysmorphic features, retardation and congenital abnormalities. One patient developed colorectal cancer. However, only one case had disease onset before 2 years of age and severe symptoms requiring colectomy. No clear correlation was found between ages at onset or severity of gastrointestinal symptoms and the sizes of the deletions. We conclude that patients with 10q23 microdeletions involving the PTEN and BMPR1A genes have variable clinical phenotypes, which cannot be explained merely by the deletion sizes. The phenotypes are not restricted to severe infantile juvenile polyposis but include childhood-onset cases with macrocephaly, retardation, mild gastrointestinal symptoms and possibly early-onset colorectal cancer. |
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Keywords: | 10q23 BMPR1A juvenile polyposis PTEN |
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