Variable phenotypes associated with 10q23 microdeletions involving the PTEN and BMPR1A genes
- 9 July 2008
- journal article
- case report
- Published by Wiley in Clinical Genetics
- Vol. 74 (2), 145-154
- https://doi.org/10.1111/j.1399-0004.2008.01026.x
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.Keywords
This publication has 26 references indexed in Scilit:
- High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndromeJournal of Medical Genetics, 2007
- Recurrent 10q22-q23 Deletions: A Genomic Disorder on 10q Associated with Cognitive and Behavioral AbnormalitiesAmerican Journal of Human Genetics, 2007
- Deletion of PTEN and BMPR1A on Chromosome 10q23 Is Not Always Associated with Juvenile Polyposis of InfancyAmerican Journal of Human Genetics, 2006
- Reply to Salviati et al.American Journal of Human Genetics, 2006
- Contiguous Gene Deletion within Chromosome Arm 10q Is Associated with Juvenile Polyposis of Infancy, Reflecting Cooperation between the BMPR1A and PTEN Tumor-Suppressor GenesAmerican Journal of Human Genetics, 2006
- PTEN: One Gene, Many SyndromesHuman Mutation, 2003
- Absence of germline mutations in MINPP1, a phosphatase encoding gene centromeric of PTEN, in patients with Cowden and Bannayan-Riley- Ruvalcaba syndrome without germline PTEN mutationsJournal of Medical Genetics, 2000
- Juvenile gastrointestinal polyposis or the infantile Cronkhite-Canada syndromeJournal of Pediatric Surgery, 1986
- Diffuse gastrointestinal polyposis associated with chronic blood loss, hypoproteinemia, and anasarca in an infantThe Journal of Pediatrics, 1970