The role of tenascin gene (TNXB) mutation in Ellers-like phenotype formation in patients with genital prolapse


DOI: https://dx.doi.org/10.18565/therapy.2020.6.156-162

Smolnova T.Yu., Trofimov D.Yu., Chuprynin V.D.

National Medical Research Center of Obstetrics, Gynecology and Perinatology named after Acad. V.I. Kulakov of the Ministry of Healthcare of Russia, Moscow
Despite the generality of the clinical manifestations of the hypermobile type of Ehlers–Danlos syndrome, benign joints hypermobility, and the Ehlers-like phenotype, it is not possible to phenotypically classify patients as not only a monogenic form of Ehlers–Danlos syndrome, but even more so to an undifferentiated form. Therefore, the search for new diagnostic methods to confirm the form of CTD is extremely actual. The article describes clinical cases of Ehlers-like phenotype and genital prolapse in two patients admitted to the gynecological clinic for surgical treatment. Using a unified panel for detecting genetic polymorphisms and genetic mutations, created on the basis of the high-throughput sequencing (NGS) method, it was found that a mutation in the TNXB gene equally contributes to the development of hypermobile Ehlers–Danlos syndrome and benign joint hypermobility syndrome. Patients with a mutation in the TNXB gene have genital prolapse with a predominance of the apical form, as well as other signs of an Ehlers-like phenotype: skin thinning, muscle hypotension, grade 1–2 heart valve prolapse with regurgitation, joint hypermobility, etc. Mutations in the COL11A2 gene can neutralize the severity of joint hypermobility syndrome, but they are forming other signs: osteoarthritis, osteochondrosis, arthrosoarthritis.Pudendal neuropathy, as well as proctogenic constipations and other motor disorders of the colon, in patients with genital prolapse may not be occured due to rectocele, but the result of a deficiency in tenascin-X expression. The developed panel of polymorphisms and genetic mutations for CTD diagnosing and its form identification allows not only to establish a genetic defect, but also to explain cross-clinical manifestations and interactions taking place as a result of several mutations.
Keywords: arthrosoarthritis, Ehlers-like phenotype, elastosis, tenascin-X, COL11A2, TNXB, Ehlers–Danlos syndrome, joint hypermobility, mutation, osteoarthritis, gene, connective tissue dysplasia, genital prolapse
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About the Autors

Tatiana Yu. Smolnova, MD, senior associate of the surgery Department of the National Medical Research Center of Obstetrics, Gynecology and Perinatology named after Acad. V.I. Kulakov of the Ministry of Healthcare of Russia. Address: 117997, Moscow, 4 Akademika Oparina Str. Tel.: +7 (926) 310-80-90. E-mail: smoltat@list.ru. ORCID: 0000-0003-3543-651X
Dmitry Yu. Trofimov, MD, professor of RAS, Director of the Institute of Reproductive Genetics of the National Medical Research Center of Obstetrics, Gynecology and Perinatology named after Acad. V.I. Kulakov of the Ministry of Healthcare of Russia. Address: 117997, Moscow, 4 Akademika Oparina Str. Tel.: +7 (495) 438-78-33. E-mail: d_Trofimov @oparina4.ru
Vladimir D. Chuprynin, PhD, head of surgery Department of the National Medical Research Center of Obstetrics, Gynecology and Perinatology named after Acad. V.I. Kulakov of the Ministry of Healthcare of Russia. Address: 117997, Moscow, 4 Akademika Oparina Str. Tel.: +7 (495) 438-78-33. E-mail: v_chuprynin@oparina4.ru


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