Clinical effects of single-gene duplication of Xp11.4 involving the TSPAN7 gene
https://doi.org/10.25557/2073-7998.2021.09.45-47
Abstract
Single-gene microduplication of the TSPAN7 gene is often classified as either a rearrangement of uncertain clinical significance or likely pathogenic, although other clinical features are often observed in hemizygous carriers in addition to intellectual disability or autism. This is characteristic of syndromic intellectual disability. In this study, we analyzed the pathogenetic significance of the microduplication in the XLID phenotype in two patients.
About the Authors
E. N. Tolmacheva
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
A. A. Kashevarova
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
E. O. Belyaeva
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
O. A. Salyukova
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
E. A. Fonova
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
M. E. Lopatkina
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
G. V. Drozdov
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
D. A. Fedotov
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
I. N. Lebedev
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
References
1. Bassani S., Zapata J., Gerosa L., Moretto E., Murru L., Passafaro M. The neurobiology of X-linked intellectual disability. The Neuroscientist 2013;19:541-542.
2. Stevenson R.E, Holden K.R, Rogers R.C, Schwartz C.E. Seizures and X-linked intellectual disability. Eur. J. Med. Genet. 2012;55: 307-312.
3. Thunstrom А., Sodermark L., Ivarsson L., Samuelsson L., Stefanova M. UBE2A deficiency syndrome: a report of two unrelated cases with large Xq24 deletions encompassing UBE2A gene. Am. J. Med. Genet. A. 2015;167A: 204-10.
4. Perot B. P., Ménager M. M. Tetraspanin 7 and its closest paralog tetraspanin 6: membrane organizers with key functions in brain development, viral infection, innate immunity, diabetes and cancer. Med Microbiol Immunol. 2020; 209:427-436.
5. Utine G.E., Kiper P.Ö., Alanay Y., Haliloğlu G., Aktaş D., Boduroğlu K., Tunçbilek E., Alikaşifoğlu M. Searching for Copy Number Changes in Nonsyndromic X-Linked Intellectual Disability. Mol. Syndromol. 2012; 2(2): 64-71.
Review
For citations:
Tolmacheva E.N., Kashevarova A.A., Belyaeva E.O., Salyukova O.A., Fonova E.A., Lopatkina M.E., Drozdov G.V., Fedotov D.A., Lebedev I.N. Clinical effects of single-gene duplication of Xp11.4 involving the TSPAN7 gene. Medical Genetics. 2021;20(9):45-47. (In Russ.) https://doi.org/10.25557/2073-7998.2021.09.45-47
Views:
492
Email this article 