Mutation in the ADAMTSL4 gene in a patient with a Marfan-like phenotype (Marfanoid appearance) without Ectopia lentis with uterine scar failure after cesarean section


DOI: https://dx.doi.org/10.18565/therapy.2020.6.150-155

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

National Medical Research Center of Obstetrics, Gynecology and Perinatology named after Acad. V.I. Kulakov of the Ministry of Healthcare of Russia, Moscow
The ADAMTSL4 gene mutation is specific for lens subluxation (Ectopia lentis), which can be both syndromic (associated with Marfan, Weill–Marchesani syndromes and homocysteinuria), and isolated. A clinical case of a patient with a marfan-like phenotype (marfanoid appearance) with excluded Marfan syndrome with uterine scar failure after cesarean section with a mutation of the ADAMTSL4 gene is presented. We used the developed unified panel for detecting genetic mutations in connective tissue dysplasia, based on the high-throughput sequencing (NGS) method. In this patient, Marfan syndrome was not confirmed, an isolated form of Ectopia lentis was not detected. Descriptions in the literature that a mutation of the ADAMTSL4 gene occurs with a Marfan-like phenotype (Marfanoid appearance), as well as in the absence of Ectopia lentis, were not found.
Keywords: uterine scar failure after cesarean section, lens subluxation, ADAMTSL4 gene mutation, Marfan-like phenotype, Ectopia lentis, connective tissue dysplasia
Read entire article

Literature


  1. Neuhann T.M. [Hereditary ectopia lentis]. Klin Monbl Augenheilkd. 2015; 232(3): 259–65. doi: 10.1055/s-0034-1383330.

  2. Gabriel L.A.R., Wang L.W., Bader H. et al. ADAMTSL4, a secreted glycoprotein widely distributed in the eye, binds fibrillin-1 microfibrils and accelerates microfibril biogenesis. Invest Ophthalmol Vis Sci. 2012; 53(1):461–69. doi: 10.1167/iovs.10-5955.

  3. Недифференцированные дисплазии соединительной ткани (проект клинических рекомендаций). Терапия. 2019; 7: 9–42. [Undifferentiated connective tissue dysplasias (draft clinical guidelines). Therapy. 2019; 7: 9–42 (In Russ.)]. doi: https://dx.doi.org/10.18565/therapy.2019.7.9-42.


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
Vyacheslav V. Chursin, surgeon at 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


Similar Articles

Back to Content

Бионика Медиа