Exome sequencing for diagnosing and predicting uterine and vaginal anomalies
- Authors: Arakelyan A.S1, Shubina J.1, Popryadukhin A.Y.1, Goltsov A.Y.1, Trofimov D.Y.1, Adamyan L.V1
-
Affiliations:
- Academician V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia
- Issue: No 12 (2021)
- Pages: 120-127
- Section: Articles
- URL: https://journals.eco-vector.com/0300-9092/article/view/249412
- DOI: https://doi.org/10.18565/aig.2021.12.120-127
- ID: 249412
Cite item
Abstract
Full Text
About the authors
A. S Arakelyan
Academician V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia
Email: arakelyanac@mail.ru
Je. Shubina
Academician V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia
A. Yu Popryadukhin
Academician V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia
Email: inferno_989@mail.ru
A. Yu. Goltsov
Academician V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia
Email: andrey.goltsov@gmail.com
D. Yu Trofimov
Academician V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia
Email: d_trofimov@oparina4.ru
L. V Adamyan
Academician V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia
Email: adamyanleila@gmail.com
References
- Grimbizis G.F., Gordts S., Di Spiezio S.A., Brucker S., De Angelis C., Gergolet M. et al. The ESHRE/ESGE consensus on the classification of female genital tract congenital anomalies. Hum Reprod. 2013; 28(8): 2032-44. https://dx,doi.org/10.1093/humrep/det098.
- Chan Y.Y., Jayaprakasan K., Zamora J., Thornton J.G., Raine-Fenning N., Coomarasamy A. The prevalence of congenital uterine anomalies in unselected and high-risk populations: a systematic review. Hum. Reprod. Update. 2011; 17(6): 761-71. https://dx,doi.org/10.1093/humupd/dmr028.
- Saravelos S.H., Cocksedge K.A., Li T.C. Prevalence and diagnosis of congenital uterine anomalies in women with reproductive failure: a critical appraisal. Hum. Reprod. Update. 2008; 14(5): 415-29. https://dx.doi.org/10.1093/humupd/dmn018.
- Сафронов О.В., Брюхина Е.В., Ищенко Л.С., Сафронова Л.Е., Мшак-Манукян Г.Н. Современные классификационные системы и методологические подходы в диагностике аномалий развития матки. Акушерство и гинекология. 2019; 3: 18-24. https://dx.doi.org/10.18565/aig.2019.3.18-24.
- Ribeiro S.C., Tormena R.A., Peterson T., Gonzales M., Serrano P.G., Almeida J.A.M., Baracat E. Mullerian duct anomalies: review of current management. Sao Paulo Med. J. 2009; 127: 92-6. https://dx,doi.org/10.1590/S1516-31802009000200007.
- Mueller G.C., Hussain H.K., Smith Y.R., Quint E.H., Carlos R.C., Johnson T.D., DeLancey J.O. Mullerian duct anomalies: comparison of MRI diagnosis and clinical diagnosis. AJR Am. J. Roentgenol. 2007; 189(6): 1294- 302. https://dx,doi.org/10.2214/AJR.07.2494.
- Кириллова Е.А., Курбанова А.Г., Трепаков Е.А. Клинико-генетические исследования при пороках развития мочеполовой системы женщины. В. кн.: XIV Международный генетический конгресс. Секционные заседания. М.; 1978.
- Донников А.Е. Этические вопросы, связанные с преконцепционным генетическим скринингом: исторический опыт и современные тенденции. Акушерство и гинекология. 2019; 11: 46-54. [Donnikov A.E. Ethical issues related to preconceptional genetic screening: historical experience and current trends. Obstetrics and gynecology. 2019; 11: 46-54. (in Russian)]. https://dx.doi.org/10.18565/aig.2019.11.46-54.
- Буяновская О.А., Хохлова С.В., Сенча А.Н. Настоящее и будущее молекулярно-генетического анализа в скрининге и профилактике злокачественных новообразований репродуктивных органов у женщин. Акушерство и гинекология. 2019; 11: 55-64. https://dx.doi.org/10.18565/aig.2019.11.55-64.
- Кобозева Н.В., Гуркин Ю.А. Реконструктивные операции при аномалиях у девочек. Современные методы оперативного лечения в акушерстве и гинекологии. М.; 1983.
- Трепаков Е.А., Пиганова Н.Л. Медико-генетические аспекты аномалий развития матки. Акушерство и гинекология. 1973; 10: 44-8.
- Elias S., Carson S.A., Simpson J.A. The handfoot-uterus syndrome: a rare autosomal dominant disorder. Fertil. Steril. 1978; 29: 239.
- Golan A., Langer R., Bucovsky I. Congenital anomalies of the Mullerian fusion defects. Fertil. Steril. 1989; 51(5): 747-55.
- Хащенко Е.П., Аллахвердиева Э.З., Аракелян А. С., Уварова Е.В., Чупрынин В.Д., Кулабухова Е.А., Лужина И.А., Учеваткина П.В., Мамедова Ф.Ш., Асатурова А.В. Особенности дифференциальной диагностики и тактики ведения пациенток с редкой формой порока развития мюллеровых протоков ACUM и маточного рудиментарного рога в раннем репродуктивном возрасте. Акушерство и гинекология. 2021; 6: 15667. https://dx.doi.org/10.18565/aig.2021.6.156-167.
- Скосырева А.М., Балика Ю.Д., Карташева В.Е. Влияние этиолового алкоголя на развитие эмбриона и плода в эксперименте. Акушерство и гинекология. 1981; 1: 38-40.
- Shokeir M.H. Aplasia of the Mullerian system: evidence for probable sex- limited autosomal dominant inheritance. Birth Defects Orig. Artic Ser. 1978; 14(6C): 147-65.
- Herlin M., Hojland A.T., Petersen M.B. Familial occurrence of Mayer-Rokitansky-Kuster-Hauser syndrome: a case report and review of the literature. Am. J. Med. Genet. A. 2014: 164A(9): 2276-86. https://dx.doi.org/10.1002/ajmg.a.36652.
- Gervasini C., Grati F.R., Lalatta F., Tabano S., Gentilin B., Colapietro P. et al. SHOX duplications found in some cases with type I. Mayer-Rokitansky-Kuster-Hauser syndrome. Genet. Med. 2010; 12(10): 634-40. https://dx.doi.org/10.1097/GIM.0b013e3181ed6185.
- Адамян Л.В., Спицын В.А., Андреева Е.Н. Генетические аспекты гинекологических заболеваний. М.: Медицина; 1998.
- Ma J., Qin Y., Liu W., Duan H., Xia M., Chen Z.J. Analysis of PBX1 mutations in 192 Chinese women with Mullerian duct abnormalities. Fertil. Steril. 2011; 95(8): 2615-7. https://dx.doi.org/10.1016/j.fertnstert.2011.04.074.
- Аракелян А.С., Попрядухин А.Ю., Карапетян Э.А. Генетические факторы развития синдрома Майера-Рокитанского-Кюстера-Хаузера (аплазии матки и влагалища). Проблемы репродукции. 2020; 26(5): 43-50. https://dx.doi.org/10.17116/repro20202605143.
- Maneschi M., Maneschi F., Fuga G. Reproductive impairment of woman with unicornuate uterus. Acta Obstet. Gynecol. Scand. 1988; 67(6): 557-60.
- Van der Auwera G.A., O'Connor B.D. Genomics in the cloud: using Docker, GATK, and WDL in Terra. O'Reilly Media; 2020.
- McLaren W., Gil L., Hunt S.E., Riat H.S., Ritchie G.R., Thormann A. et al. The ensembl variant effect predictor. Genome Biol. 2016; 17(1): 122. https://dx.doi.org/10.1186/s13059-016-0974-4.
- Cheroki C., Krepischi-Santos A.C., Szuhai K., Brenner V., Kim C.A., Otto P.A., Rosenberg C. Genomic imbalances associated with Mullerian aplasia. J. Med. Genet. 2008; 45(4): 228-32. https://dx.doi.org/10.1136/jmg.2007.051839.
- Schnabel C.A., Selleri L., Cleary M.L. Pbx1 is essential for adrenal development and urogenital differentiation. Genesis. 2003; 37: 123-30.
- Бобкова М.В., Баранова Е.Е., Кузнецова М.В., Трофимов Д.Ю., Адамян Л.В. Семейный случай синдрома Мейера-Рокитанского-Кюстера-Хаузера и обзор литературы. Проблемы репродукции. 2015; 21(4): 17-22. https://dx.doi.org/10.17116/repro201521417-22.
- Ludwig K.S. The Mayer-Rokitansky-Kuster syndrome. An analysis of its morphology and embryology. Part II: Embryology. Arch. Gynecol. Obstet. 1998; 262(1-2): 27-42.
- Guerrier D., Mouchel T., Pasquier L., Pellerin I. The Mayer-Rokitansky-Kuster-Hauser syndrome (congenital absence of uterus and vagina)-phenotypic manifestations and genetic approaches. J. Negat. Results Biomed. 2006; 5: 1. https://dx.doi.org/10.17116/repro201521417-22.10.1186/1477-5751-5-1.
- Адамян Л.В., Попрядухин А.Ю., Аракелян А.С., Козаченко И.Ф., Фархат К.Н. Аплазия матки и влагалища (синдром Майера-Рокитанского-Кюстера-Хаузера) в сочетании с эндометриозом: нерешенные аспекты этиологии и патогенеза (обзор литературы). Проблемы репродукции. 2016; 22(3): 8-14. https://dx.doi.org/10.17116/repro20162238-14.
- Ma W., Li Y., Wang M., Li H., Su T., Li Y., Wang S. Associations of polymorphisms in WNT9B and PBX1 with Mayer-Rokitansky-Kuster-Hauser syndrome in Chinese Han. PLoS One. 2015; 10(6): e0130202. https://dx.doi.org/10.1371/journal.pone.0130202.
- Kim J.J., Taylor H.S., Lu Z., Ladhani O., Hastings J.M., Jackson K.S., Fazleabas A.T. Altered expression of HOXA10 in endometriosis: potential role in decidualization. Mol. Hum. Reprod. 2007; 13(5): 323-32. https://dx.doi.org/10.1093/molehr/gam005.
- Бобкова М.В., Баранова Е.Е., Адамян Л.В. Генетические аспекты формирования аплазии влагалища и матки: история изучения. Проблемы репродукции. 2015; 21(3): 10-5. [Bobkova M.V., Baranova E.E., Adamyan L.V. Genetic aspects of vagina and the uterus aplasia: the history. Russian Journal of Human Reproduction. 2015; 21(3): 10-15. (in Russian)]. https://dx.doi.org/10.17116/repro201521310-15.
- Carroll T.J., Park J.S., Hayashi S., Majumdar A., McMahon A.P. Wnt9b plays a central role in the regulation of mesenchymal to epithelial transitions underlying organogenesis of the mammalian urogenital system. Dev. Cell. 2005; 9(2): 283-92. https://dx.doi.org/10.1016/j.devcel.2005.05.016.
- Halt K., Vainio S. Coordination of kidney organogenesis by Wnt signaling. Pediatr. Nephrol. 2014; 29(4): 737-44. https://dx.doi.org/10.1007/s00467-013-2733-z.
- Masse J., Watrin T., Laurent A., Deschamps S., Guerrier D., Pellerin I. The developing female genital tract: from genetics to epigenetics. Int. J. Dev. Biol. 2009: 53(2-3): 411-24. https://dx.doi.org/10.1387/ijdb.082680jm.
- Devriendt K., Jaeken J., Matthijs G., Van Esch H., Debeer P., Gewillig M., Fryns J.P. Haploinsufficiency of the HOXA gene cluster, in a patient with hand-foot-genital syndrome, velopharyngeal insufficiency, and persistent patent Ductus botalli. Am. J. Hum. Genet. 1999; 65(1): 249-51. https://dx.doi.org/10.1086/302452.
- Taylor H.S., Vanden Heuvel G.B., Igarashi P. A conserved Hox axis in the mouse and human female reproductive system: late establishment and persistent adult expression of the Hoxa cluster genes. Biol. Reprod. 1997; 57(6):1338-45. https://dx.doi.org/10.1095/biolreprod57.6.1338.
- Burel A., Mouchel T., Odent S., Tiker F., Knebelmann B., Pellerin I., Guerrier D. Role of HOXA7 to HOXA13 and PBX1 genes in various forms of MRKH syndrome (congenital absence of uterus and vagina). J. Negat. Results Biomed. 2006; 5: 4. https://dx.doi.org/10.1186/1477-5751-5-4.
- Rall K., Barresi G., Walter M., Poths S., Haebig K., Schaeferhoff K. et al. A combination of transcriptome and methylation analyses reveals embryologically relevant candidate genes in MRKH patients. Orphanet. J. Rare Dis. 2011; 6: 32. https://dx.doi.org/10.1186/1750-1172-6-32.
- De Tomasi L., David P., Humbert C., Silbermann F., Arrondel C., Tores F. et al. Mutations in GREB1L cause bilateral kidney agenesis in humans and mice. Am. J. Hum. Genet. 2017; 101(5): 803-14. https://dx.doi.org/10.1016/j.ajhg.2017.09.026.
- Herlin M.K., Le V.Q., H0jland A.T., Ernst A., Okkels H., Petersen A.C. et al. Whole-exome sequencing identifies a GREB1L variant in a three-generation family with Mu 1 lerian and renal agenesis: a novel candidate gene in Mayer- Rokitansky-Kuster-Hauser (MRKH) syndrome. A case report. Hum. Reprod. 2019; 34(9): 1838-46. https://dx.doi.org/10.1093/humrep/dez126.
- Bingham C., Ellard S., Cole T.R., Jones K.E., Allen L.I., Goodship J.A. et al. Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor- 1beta mutations. Kidney Int. 2002; 61(4): 1243-51. https://dx.doi.org/10.1046/j.1523-1755.2002.00272.x.
- Lindner T.H., Njolstad P.R., Horikawa Y., Bostad L., Bell G.I., Sovik O. A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta. Hum. Mol. Genet. 1999; 8(11): 2001-8. https://dx.doi.org/10.1093/hmg/8.11.2001.
- Sundaram U.T., McDonald-McGinn D.M., Huff D., Emanuel B.S., Zackai E.H., Driscoll D.A., Bodurtha J. Primary amenorrhea and absent uterus in the 22q11.2 deletion syndrome. Am. J. Med. Genet. A. 2007; 43A(17): 2016-8. https://dx.doi.org/10.1002/ajmg.a.31736.
- Bernardini L., Gimelli S., Gervasini C., Carella M. , Baban A., Frontino G. et al. Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports. Orphanet J. Rare Dis. 2009; 4: 25. https://dx.doi.org/10.1186/1750-1172-4-25.
- Ledig S., Schippert C., Strick R., Beckmann M.W., Oppelt P.G., Wieacker P. Recurrent aberrations identified by array-CGH in patients with Mayer-Rokitansky-KUster-Hauser syndrome. Fertil. Steril. 2011: 95(5): 1589-94. https://dx.doi.org/10.1016/j.fertnstert.2010.07.1062.
- Nik-Zainal S., Strick R., Storer M., Huang N., Rad R., Willatt L. et al. High incidence of recurrent copy number variants in patientswith isolated and syndromic MUllerian aplasia. J. Med. Genet. 2011: 48(3): 197-204. https://dx.doi.org/10.1136/jmg.2010.082412.
- Hinkes B., Hilgers K.F., Bolz H.J., Goppelt-Struebe M., Amann K., Nagl S. et al. A complex microdeletion 17q12 phenotype in a patient withrecurrent de novo membranous nephropathy. BMC Nephrol. 2012; 13: 27. https://dx.doi.org/10.1186/1471-2369-13-27.
- McGowan R., Tydeman G., Shapiro D., Craig T., Morrison N., Logan S. et al. DNA copy number variations are important in the complex genetic architecture of mU llerian disorders. Fertil. Steril. 2015: 103(4): 1021-30.e1. https://dx.doi.org/10.1016/j.fertnstert.2015.01.008.
- Simpson J.L. Genetics of the female reproductive ducts. Am. J. Med. Genet. 1999; 89: 224-39.