ArticleCytogenetic and genome research2009
Constitutional haploinsufficiency of tumor suppressor genes in mentally retarded patients with microdeletions in 17p13.1.
Article in Cytogenetic and genome research, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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14 citing papers in PubMed, 35 citations in OpenAlex.
- A Complex Chromosome Rearrangement DisruptingCase reports in genetics · 2025Article
- A germline chimeric KANK1-DMRT1 transcript derived from a complex structural variant is associated with a congenital heart defect segregating across five generations.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2024Article
- Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature.Journal of autism and developmental disorders · 2024Review
- A germline chimeric KANK1-DMRT1 transcript derived from a complex structural variant is associated with a congenital heart defect segregating across five generations.Research square · 2023Article
- Copy number variation profiling in pharmacogenes using panel-based exome resequencing and correlation to human liver expression.Human genetics · 2020Article
- Endocrinological Abnormalities Are a Main Feature of 17p13.1 Microduplication Syndrome: A New Case and Literature Review.Molecular syndromology · 2016Article
- Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes.American journal of human genetics · 2014Article
- Article
- Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.American journal of human genetics · 2013Article
- Aberrant upregulation of LRRC1 contributes to human hepatocellular carcinoma.Molecular biology reports · 2013Article
- Intellectual disability, oncogenes and tumour suppressor genes: the way forward?Journal of genetics · 2012Article
- Germline DNA copy number variation in familial and early-onset breast cancer.Breast cancer research : BCR · 2012Article
- Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms.European journal of human genetics : EJHG · 2012Article
- A common molecular mechanism underlies two phenotypically distinct 17p13.1 microdeletion syndromes.American journal of human genetics · 2010Article
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Authors and funding
11 authors at 8 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Chromosome microdeletions or duplications are detected in 10-20% of patients with mental impairment and normal karyotypes. A few cases have been reported of mental impairment with microdeletions comprising tumor suppressor genes. By array-CGH we detected 4 mentally impaired individuals carrying de novo microdeletions sharing an overlapping segment of approximately 180 kb in 17p13.1. This segment encompasses 18 genes, including 3 involved in cancer, namely KCTD11/REN, DLG4/PSD95, and GPS2. Furthermore, in 2 of the patients, the deletions also included TP53, the most frequently inactivated gene in human cancers. The 3 tumor suppressor genes KCTD11, DLG4, and GPS2, in addition to the GABARAP gene, have a known or suspected function in neuronal development and are candidates for causing mental impairment in our patients. Among our 4 patients with deletions in 17p13.1, 3 were part of a Brazilian cohort of 300 mentally retarded individuals, suggesting that this segment may be particularly prone to rearrangements and appears to be an important cause (approximately 1%) of mental retardation. Further, the constitutive deletion of tumor suppressor genes in these patients, particularly TP53, probably confers a significantly increased lifetime risk for cancer and warrants careful oncological surveillance of these patients. Constitutional chromosome deletions containing tumor suppressor genes in patients with mental impairment or congenital abnormalities may represent an important mechanism linking abnormal phenotypes with increased risks of cancer.
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