Clinical and genetic characteristics of the X chromosome distal long arm microduplications encompassing the MECP2 gene

Voinova, Victoria; Sg, Vorsanova; Yurov, Yuri B.; Kolotiy, A.D.; Davidova, Yu I; Demidova, Irina A.; Новиков, П. В.; Iourov, Ivan Y.

doi:10.17116/jnevro201511510110-16

Cited by 3 publications

(1 citation statement)

References 24 publications

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“…Probably the best example of such a disease is MECP2 duplication syndrome, which phenotype is drastically different from RTT [42, 43]. Recently, a number of patients with MECP2 duplication syndrome from the Russian cohort of children with intellectual disability, autism, epilepsy and congenital malformations have been described [44]. Although Russian RTT cohort includes more than 350 patients, it seems that clinical/molecular diagnosis of RTT has not still achieved the level required to estimate properly the incidence of the disease in all Russia’s regions.…”

Section: Rett Syndrome Research In Russiamentioning

confidence: 99%

VIII World Rett Syndrome Congress & Symposium of rare diseases, Kazan, Russia

et al. 2018

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BackgroundVIII World Rett Syndrome Congress & Symposium of Rare Diseases was held in Kazan, Russia from 13 to 17 May 2016. Although it has been a while since the event, specific problems highlighted by the contributors to the scientific program have stood the test of time. The Symposium of Rare Diseases has shown that studying Rett syndrome provides clues on molecular and cellular mechanisms for a variety of rare genetic/genomic disorders. Moreover, rare diseases associated with Rett-syndrome-like phenotype or MECP2 mutations/copy number variations have been thoroughly covered by a number of contributors. In this respect, we have found that a review dedicated to the scientific program of the VIII World Rett Syndrome Congress & Symposium of Rare Diseases could be an important addition to current literature.ConclusionTaking the opportunity to review the World Rett Syndrome Congress & Symposium of Rare Diseases at Kazan, we have made an attempt to describe a number of achievements and developments in the field of studying Rett syndrome and rare diseases in Russia. Furthermore, chromosomal abnormalities/disorders have been considered in the rare disease context. Such approach to chromosomal abnormalities/disorders has been found to be rather new for an appreciable part of international researchers and health care providers. We do hope that this congress review may be helpful not only for those who are interested in local development of research and management of rare genetic disorders, but also for international researchers and clinical community of rare disease specialists.Electronic supplementary materialThe online version of this article (10.1186/s13039-018-0412-2) contains supplementary material, which is available to authorized users.

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Section: Rett Syndrome Research In Russiamentioning

confidence: 99%

VIII World Rett Syndrome Congress & Symposium of rare diseases, Kazan, Russia

et al. 2018

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IRAK1 Duplication in MECP2 Duplication Syndrome Does Not Increase Canonical NF-κB–Induced Inflammation

Gottschalk

Kölsch²,

Wagner

et al. 2022

J Clin Immunol

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Purpose Besides their developmental and neurological phenotype, most patients with MECP2/IRAK1 duplication syndrome present with recurrent and severe infections, accompanied by strong inflammation. Respiratory infections are the most common cause of death. Standardized pneumological diagnostics, targeted anti-infectious treatment, and knowledge of the underlying pathomechanism that triggers strong inflammation are unmet clinical needs. We investigated the influence of IRAK1 overexpression on the canonical NF-κB signaling as a possible cause for excessive inflammation in these patients. Methods NF-κB signaling was examined by measuring the production of proinflammatory cytokines and evaluating the IRAK1 phosphorylation and degradation as well as the IκBα degradation upon stimulation with IL-1β and TLR agonists in SV40-immortalized fibroblasts, PBMCs, and whole blood of 9 patients with MECP2/IRAK1 duplication syndrome, respectively. Results Both, MECP2/IRAK1-duplicated patients and healthy controls, showed similar production of IL-6 and IL-8 upon activation with IL-1β and TLR2/6 agonists in immortalized fibroblasts. In PBMCs and whole blood, both patients and controls had a similar response of cytokine production after stimulation with IL-1β and TLR4/2/6 agonists. Patients and controls had equivalent patterns of IRAK1 phosphorylation and degradation as well as IκBα degradation upon stimulation with IL-1β. Conclusion Patients with MECP2/IRAK1 duplication syndrome do not show increased canonical NF-κB signaling in immortalized fibroblasts, PBMCs, and whole blood. Therefore, we assume that these patients do not benefit from a therapeutic suppression of this pathway.

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Rett syndrome in Russia and abroad: a scientific historical review

Vorsanova

Воинова

Юров

2020

Ross. vestn. perinatol. pediatr.

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This review presents the theoretical, practical and geographical aspects of Rett syndrome and other rare diseases, according to the data of the last VIII International Congress in Russia, and the main publications on Rett syndrome. The issues highlighted by the participants remain relevant and determine the direction of modern studies. The presentations made at the symposium helped to form a global concept of the molecular and cellular mechanisms of Rett syndrome and a number of rare genetic/genomic diseases. The article presents a number of domestic findings in the field of Rett syndrome and other rare diseases. The authors also present information on rare diseases associated with the Rett-like-phenotype or with mutations/variations of the MECP2 gene sequence copies. The authors consider the identified chromosomal (genomic) disorders / diseases in the context of rare diseases. This approach to the Rett syndrome studies analysis is quite new in the world research practice. We hope this review to become valuable not only for specialists in the field of rare genetic diseases, but also for the scientists and clinicians studying Rett syndrome and for physicians (pediatricians, geneticists, neurologists, psychiatrists) meeting these patients in their practice.

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Clinical and genetic characteristics of the X chromosome distal long arm microduplications encompassing the MECP2 gene

Cited by 3 publications

References 24 publications

VIII World Rett Syndrome Congress & Symposium of rare diseases, Kazan, Russia

VIII World Rett Syndrome Congress & Symposium of rare diseases, Kazan, Russia

IRAK1 Duplication in MECP2 Duplication Syndrome Does Not Increase Canonical NF-κB–Induced Inflammation

Rett syndrome in Russia and abroad: a scientific historical review

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