Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome
| Autor: | Mieke M. van Haelst, Rutger A.J. Nievelstein, Stephen P. Robertson, Milan Rimac, Danielle Bodmer, Michael T. Gabbett, Minna Nyström, Annekatrin Wernstedt, Johan Offerhaus, Birgit Krabichler, Johannes Zschocke, Martine Raphael, Katharina Wimmer, Minttu Kansikas, Wayne Nicholls, Ulrich Strasser, Annette F. Baas |
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| Přispěvatelé: | Pediatric surgery, Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D), Pathology, Other departments |
| Jazyk: | angličtina |
| Rok vydání: | 2013 |
| Předmět: |
Male
Gray matter heterotopia Pediatrics Contractile Proteins 0302 clinical medicine Pregnancy PMS2 Child Agenesis of the corpus callosum Genetics (clinical) Mismatch Repair Endonuclease PMS2 Adenosine Triphosphatases 0303 health sciences education.field_of_study Microfilament Proteins Nuclear Proteins Syndrome Parotid Neoplasms 3. Good health DNA-Binding Proteins Heterotopia (medicine) Child Preschool 030220 oncology & carcinogenesis Female Microsatellite Instability MutL Protein Homolog 1 medicine.medical_specialty Filamins Population Biology Article 03 medical and health sciences Internal medicine Genetics medicine Humans education Adaptor Proteins Signal Transducing 030304 developmental biology constitutional mismatch repair deficiency syndrome agenesis of corpus callosum gray matter heterotopia biallelic germline mutation childhood cancer medicine.disease DNA Repair-Deficiency Disorders Pediatric cancer MSH6 DNA Repair Enzymes Endocrinology MSH2 Mutation Agenesis of Corpus Callosum Glioblastoma Malformations of Cortical Development Group II |
| Zdroj: | European Journal of Human Genetics European Journal of Human Genetics, 21(1), 55-61. Nature Publishing Group Baas, A F, Gabbett, M, Rimac, M, Kansikas, M, Raphael, M, Nievelstein, R A, Nicholls, W, Offerhaus, J, Bodmer, D, Wernstedt, A, Krabichler, B, Strasser, U, Nyström, M, Zschocke, J, Robertson, S P, van Haelst, M M & Wimmer, K 2013, ' Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome ', European Journal of Human Genetics, vol. 21, no. 1, pp. 55-61 . https://doi.org/10.1038/ejhg.2012.117 European journal of human genetics, 21(1), 55-61. Nature Publishing Group |
| ISSN: | 1018-4813 |
| Popis: | Constitutional mismatch repair deficiency (CMMR-D) syndrome is a rare inherited childhood cancer predisposition caused by biallelic germline mutations in one of the four mismatch repair (MMR)-genes, MLH1, MSH2, MSH6 or PMS2. Owing to a wide tumor spectrum, the lack of specific clinical features and the overlap with other cancer predisposing syndromes, diagnosis of CMMR-D is often delayed in pediatric cancer patients. Here, we report of three new CMMR-D patients all of whom developed more than one malignancy. The common finding in these three patients is agenesis of the corpus callosum (ACC). Gray matter heterotopia is present in two patients. One of the 57 previously reported CMMR-D patients with brain tumors (therefore all likely had cerebral imaging) also had ACC. With the present report the prevalence of cerebral malformations is at least 4/60 (6.6%). This number is well above the population birth prevalence of 0.09-0.36 live births with these cerebral malformations, suggesting that ACC and heterotopia are features of CMMR-D. Therefore, the presence of cerebral malformations in pediatric cancer patients should alert to the possible diagnosis of CMMR-D. ACC and gray matter heterotopia are the first congenital malformations described to occur at higher frequency in CMMR-D patients than in the general population. Further systematic evaluations of CMMR-D patients are needed to identify possible other malformations associated with this syndrome. European Journal of Human Genetics (2013) 21, 55-61; doi: 10.1038/ejhg.2012.117; published online 13 June 2012 |
| Databáze: | OpenAIRE |
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