Skip to main content
main-content
Top

Tip

Swipe om te navigeren naar een ander artikel

Gepubliceerd in: Journal of Autism and Developmental Disorders 6/2021

20-08-2020 | Letter to the Editor

Case Report: Complicated Molecular Diagnosis of MECP2 Gene Structural Rearrangement in a Proband with Rett Syndrome

Auteurs: Tatiana Beskorovainaya, Fedor Konovalov, Nina Demina, Olga Shchagina, Maria Pashchenko, Ilya Kanivets, Denis Pyankov, Oxana Ryzhkova, Alexander Polyakov

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 6/2021

Log in om toegang te krijgen
share
DELEN

Deel dit onderdeel of sectie (kopieer de link)

  • Optie A:
    Klik op de rechtermuisknop op de link en selecteer de optie “linkadres kopiëren”
  • Optie B:
    Deel de link per e-mail

Excerpt

Rett syndrome (RTT, MIM 312750) ( https://​www.​omim.​org) is a progressive X-linked dominant neurodevelopmental disorder affecting predominantly girls. Some cases of RTT in males were also described (Schwartzman et al. 1999, Clayton-Smith et al. 2000). It is characterized by arrested development after 6–18 months of age, regression of acquired skills, loss of speech, stereotypic hand movements, microcephaly, seizures, and mental retardation (Rett 1966). Its prevalence is estimated to be 1 per 10,000–15,000 newborn girls (Hagberg 1985). RTT cases are usually sporadic, caused by de novo mutations (Amir and Zoghbi 2000) in the MECP2 gene (MIM 300005). It is located on the long arm of the chromosome X at Xq28 locus and codes methyl-CpG-binding protein 2, which has pleiotropic effects on target genes and is required for neuron maturation and normal function of nerve cells (Amir et al. 1999; Banerjee et al. 2019). Point mutations and gross deletions in the MECP2 gene, as well as complex chromosome X structural rearrangements affecting this gene, were described (Krishnaraj et al. 2017). …
Literatuur
go back to reference Amir, R. E., Van den Veyver, I. B., Wan, M., Tran, C. Q., Francke, U., & Zoghbi, H. Y. (1999). Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nature Genetics, 23(2), 185–188. CrossRef Amir, R. E., Van den Veyver, I. B., Wan, M., Tran, C. Q., Francke, U., & Zoghbi, H. Y. (1999). Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nature Genetics, 23(2), 185–188. CrossRef
go back to reference Amir, R. E., & Zoghbi, H. Y. (2000). Rett syndrome: methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations. American Journal of Medical Genetics, 97(2), 147–152. CrossRef Amir, R. E., & Zoghbi, H. Y. (2000). Rett syndrome: methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations. American Journal of Medical Genetics, 97(2), 147–152. CrossRef
go back to reference Banerjee, A., Miller, M. T., Li, K., Sur, M., & Kaufmann, W. E. (2019). Towards a better diagnosis and treatment of Rett syndrome: A model synaptic disorder. Brain, 142(2), 239–248. CrossRef Banerjee, A., Miller, M. T., Li, K., Sur, M., & Kaufmann, W. E. (2019). Towards a better diagnosis and treatment of Rett syndrome: A model synaptic disorder. Brain, 142(2), 239–248. CrossRef
go back to reference Clayton-Smith, J., Watson, P., Ramsden, S., & Black, G. C. M. (2000). Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males. The Lancet, 356, 830–832. CrossRef Clayton-Smith, J., Watson, P., Ramsden, S., & Black, G. C. M. (2000). Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males. The Lancet, 356, 830–832. CrossRef
go back to reference Gold, W. A., Krishnarajy, R., Ellaway, C., & Christodoulou, J. (2018). Rett syndrome: A genetic update and clinical review focusing on comorbidities. ACS Chemical Neuroscience, 9(2), 167–176. CrossRef Gold, W. A., Krishnarajy, R., Ellaway, C., & Christodoulou, J. (2018). Rett syndrome: A genetic update and clinical review focusing on comorbidities. ACS Chemical Neuroscience, 9(2), 167–176. CrossRef
go back to reference Hagberg, B. (1985). Rett syndrome: Swedish approach to analysis of prevalence and cause. Brain and Development, 7(3), 276–280. PubMed Hagberg, B. (1985). Rett syndrome: Swedish approach to analysis of prevalence and cause. Brain and Development, 7(3), 276–280. PubMed
go back to reference Krishnaraj, R., Ho, G., & Christodoulou, J. (2017). RettBASE: Rett syndrome database update. Human Mutation, 38(8), 922–931. CrossRef Krishnaraj, R., Ho, G., & Christodoulou, J. (2017). RettBASE: Rett syndrome database update. Human Mutation, 38(8), 922–931. CrossRef
go back to reference Li, H., & Durbin, R. (2010). Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinformatics, 26(5), 589–595. CrossRef Li, H., & Durbin, R. (2010). Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinformatics, 26(5), 589–595. CrossRef
go back to reference Neill, N. J., Ballif, B. C., Lamb, A. N., Parikh, S., Ravnan, J. B., Schultz, R. A., et al. (2011). Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISH. Genome Research, 21(4), 535–544. CrossRef Neill, N. J., Ballif, B. C., Lamb, A. N., Parikh, S., Ravnan, J. B., Schultz, R. A., et al. (2011). Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISH. Genome Research, 21(4), 535–544. CrossRef
go back to reference Philippe, C., Villard, L., De Roux, N., Raynaud, M., Bonnefond, J. P., Pasquier, L., et al. (2006). Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update. European Journal of Medical Genetics, 49(1), 9–18. CrossRef Philippe, C., Villard, L., De Roux, N., Raynaud, M., Bonnefond, J. P., Pasquier, L., et al. (2006). Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update. European Journal of Medical Genetics, 49(1), 9–18. CrossRef
go back to reference Rett, A. (1966). On a unusual brain atrophy syndrome in hyperammonemia in childhood. Wiener Medizinische Wochenschrift, 116(37), 723–726. PubMed Rett, A. (1966). On a unusual brain atrophy syndrome in hyperammonemia in childhood. Wiener Medizinische Wochenschrift, 116(37), 723–726. PubMed
go back to reference Robinson, J. T., Thorvaldsdóttir, H., Winckler, W., Guttman, M., Lander, E. S., Getz, G., et al. (2011). Integrative genomics viewer. Nature Biotechnology, 29(1), 24–26. CrossRef Robinson, J. T., Thorvaldsdóttir, H., Winckler, W., Guttman, M., Lander, E. S., Getz, G., et al. (2011). Integrative genomics viewer. Nature Biotechnology, 29(1), 24–26. CrossRef
go back to reference Schwartzman, J. S., Zatz, M., Vasquez, L. R., Gomes, R. R., Koiffmann, C. P., Fridman, C., et al. (1999). Rett syndrome in a boy with a 47, XXY karyotype. American Journal of Human Genetics, 64, 1781–1785. CrossRef Schwartzman, J. S., Zatz, M., Vasquez, L. R., Gomes, R. R., Koiffmann, C. P., Fridman, C., et al. (1999). Rett syndrome in a boy with a 47, XXY karyotype. American Journal of Human Genetics, 64, 1781–1785. CrossRef
go back to reference Tillotson, R., Selfridge, J., Koerner, M. V., Gadalla, K. K. E., Guy, J., De Sousa, D., et al. (2017). Radically truncated MeCP2 rescues Rett syndrome-like neurological defects. Nature, 550(7676), 398–401. CrossRef Tillotson, R., Selfridge, J., Koerner, M. V., Gadalla, K. K. E., Guy, J., De Sousa, D., et al. (2017). Radically truncated MeCP2 rescues Rett syndrome-like neurological defects. Nature, 550(7676), 398–401. CrossRef
Metagegevens
Titel
Case Report: Complicated Molecular Diagnosis of MECP2 Gene Structural Rearrangement in a Proband with Rett Syndrome
Auteurs
Tatiana Beskorovainaya
Fedor Konovalov
Nina Demina
Olga Shchagina
Maria Pashchenko
Ilya Kanivets
Denis Pyankov
Oxana Ryzhkova
Alexander Polyakov
Publicatiedatum
20-08-2020
Uitgeverij
Springer US
Gepubliceerd in
Journal of Autism and Developmental Disorders / Uitgave 6/2021
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI
https://doi.org/10.1007/s10803-020-04668-0