{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T03:04:49Z","timestamp":1787022289238,"version":"build-2736575974"},"reference-count":37,"publisher":"Endocrinology Research Centre","issue":"2","license":[{"start":{"date-parts":[[2023,10,8]],"date-time":"2023-10-08T00:00:00Z","timestamp":1696723200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.probl-endojournals.ru\/jour\/about\/editorialPolicies#openAccessPolicy"}],"content-domain":{"domain":["www.probl-endojournals.ru"],"crossmark-restriction":true},"short-container-title":["Probl Endokrinol (Mosk)"],"abstract":"<jats:p>Wiedemann-Rautenstrauch syndrome (neonatal progeroid syndrome) is an ultra-orphan disease from the group of premature aging syndromes with an autosomal recessive type of inheritance associated with mutations in the POLR3A, POLR3B, and POLR3GL genes encoding RNA polymerase III. The incidence of the disease is currently unknown. We present the first clinical description in Russian Federation of a patient 7 years 6 months old with Wiedemann-Rautenstrauch syndrome (compound heterozygous mutations in POLR3A gene) with progeroid features, adentia, growth retardation (height SDS -3,41, height velocity SDS -2,47), underweight (BMI SDS -6,20), and generalized lipodystrophy. The article presents the observation of the patient for 1.5 years, the world experience of dynamic follow-up of patients with neonatal progeroid syndrome, differential diagnosis, as well as recommendations for the management of patients with this syndrome. Given the lack of specific treatment to date, patients are observed by a multidisciplinary team of physicians.<\/jats:p>","DOI":"10.14341\/probl13369","type":"journal-article","created":{"date-parts":[[2024,5,22]],"date-time":"2024-05-22T11:18:14Z","timestamp":1716376694000},"page":"86-93","update-policy":"https:\/\/doi.org\/10.14341\/crossmarkpolicy2018","source":"Crossref","is-referenced-by-count":2,"title":["Wiedemann-Rautenstrauch syndrome. The  first description of a clinical case in the Russian Federation"],"prefix":"10.14341","volume":"70","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7363-3093","authenticated-orcid":true,"given":"A. L.","family":"Kungurtseva","sequence":"first","affiliation":[{"name":"I.M. Sechenov First Moscow State Medical University (Sechenov University)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9660-8795","authenticated-orcid":true,"given":"A. V.","family":"Popovich","sequence":"additional","affiliation":[{"name":"I.M. Sechenov First Moscow State Medical University (Sechenov University)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7747-6873","authenticated-orcid":true,"given":"Y. V.","family":"Tikhonovich","sequence":"additional","affiliation":[{"name":"I.M. Sechenov First Moscow State Medical University (Sechenov University)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5689-0194","authenticated-orcid":true,"given":"A. V.","family":"Vitebskaya","sequence":"additional","affiliation":[{"name":"I.M. Sechenov First Moscow State Medical University (Sechenov University)"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"5458","published-online":{"date-parts":[[2023,10,8]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","unstructured":"Toriello HV. Wiedemann-Rautenstrauch syndrome. J Med Genet. 1990;27(4):256-7. doi: https:\/\/doi.org\/10.1136\/jmg.27.4.256","DOI":"10.1136\/jmg.27.4.256"},{"key":"ref2","doi-asserted-by":"crossref","unstructured":"Paolacci S, Bertola D, Franco J, et al. Wiedemann-Rautenstrauch syndrome: A phenotype analysis. Am J Med Genet A. 2017;173(7):1763-1772. doi: https:\/\/doi.org\/10.1002\/ajmg.a.38246","DOI":"10.1002\/ajmg.a.38246"},{"key":"ref3","doi-asserted-by":"crossref","unstructured":"Temel SG, Ergoren MC, Manara E, et al. Unique combination and in silico modeling of biallelic POLR3A variants as a cause of Wiedemann-Rautenstrauch syndrome. Eur J Hum Genet. 2020;28(12):1675-1680. doi: https:\/\/doi.org\/10.1038\/s41431-020-0673-1","DOI":"10.1038\/s41431-020-0673-1"},{"key":"ref4","unstructured":"Bernard G, Vanderver A. POLR3-Related Leukodystrophy. 2012 Aug 2 [updated 2017 May 11]. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993\u20132023"},{"key":"ref5","doi-asserted-by":"crossref","unstructured":"Dinleyici EC, Tekin N, Dinleyici M, Aksit MA. Clinical and laboratory findings of two newborns with Wiedemann-Rautenstrauch syndrome: additional features, evaluation of bone turnover and review of the literature. J Pediatr Endocrinol Metab. 2008;21(6):591-6","DOI":"10.1515\/jpem-2008-210614"},{"key":"ref6","doi-asserted-by":"crossref","unstructured":"Rautenstrauch T, Snigula F, Krieg T, et al. Progeria: A cell culture study and clinical report of familial incidence. Eur J Pediatr.1977;124:101\u2013111.","DOI":"10.1007\/BF00477545"},{"key":"ref7","doi-asserted-by":"crossref","unstructured":"Wiedemann, H.R. An unidentified neonatal progeroid syndrome: Follow-up report. Eur J Pediatr.1979;130:65\u201370.","DOI":"10.1007\/BF00441901"},{"key":"ref8","unstructured":"Stoll C, Labay F, Geisert J, Alembik Y. Wiedemann-Rautenstrauch syndrome. A case report and review of the literature. Genet Couns. 1998;9(2):119-24"},{"key":"ref9","doi-asserted-by":"crossref","unstructured":"B\u00e1ez-Becerra CT, Valencia-Rinc\u00f3n E, Vel\u00e1squez-M\u00e9ndez K, et al. Nucleolar disruption, activation of P53 and premature senescence in POLR3A-mutated Wiedemann-Rautenstrauch syndrome fibroblasts. Mech Ageing Dev. 2020;192:111360. doi: https:\/\/doi.org\/10.1016\/j.mad.2020.111360","DOI":"10.1016\/j.mad.2020.111360"},{"key":"ref10","doi-asserted-by":"crossref","unstructured":"Beauregard-Lacroix E, Salian S, Kim H, Ehresmann S, et al. A variant of neonatal progeroid syndrome, or Wiedemann-Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL. Eur J Hum Genet. 2020;28(4):461-468. doi: https:\/\/doi.org\/10.1038\/s41431-019-0539-6","DOI":"10.1038\/s41431-019-0539-6"},{"key":"ref11","doi-asserted-by":"crossref","unstructured":"Lessel D, Ozel AB, Campbell SE, et al. Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations. Hum Genet. 2018;137(11-12):921-939. doi: https:\/\/doi.org\/10.1007\/s00439-018-1957-1","DOI":"10.1007\/s00439-018-1957-1"},{"key":"ref12","doi-asserted-by":"crossref","unstructured":"Wambach JA, Wegner DJ, Patni N, et al. Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome. Am J Hum Genet. 2018;103(6):968-975. doi: v10.1016\/j.ajhg.2018.10.010","DOI":"10.1016\/j.ajhg.2018.10.010"},{"key":"ref13","doi-asserted-by":"crossref","unstructured":"Vannini A, Ringel R, Kusser AG, et al. Molecular basis of RNA polymerase III transcription repression by Maf1. Cell. 2010;143(1):59-70. doi: https:\/\/doi.org\/10.1016\/j.cell.2010.09.002","DOI":"10.1016\/j.cell.2010.09.002"},{"key":"ref14","doi-asserted-by":"crossref","unstructured":"Casti\u00f1eyra G, Panal M, Lopez Presas H, et al. Two sibs with Wiedemann-Rautenstrauch syndrome: possibilities of prenatal diagnosis by ultrasound. J Med Genet. 1992;29(6):434-6. doi: https:\/\/doi.org\/10.1136\/jmg.29.6.434","DOI":"10.1136\/jmg.29.6.434"},{"key":"ref15","doi-asserted-by":"crossref","unstructured":"Hou JW. Natural course of neonatal progeroid syndrome. Pediatr Neonatol. 2009;50(3):102-9. doi: https:\/\/doi.org\/10.1016\/S1875-9572(09)60044-9","DOI":"10.1016\/S1875-9572(09)60044-9"},{"key":"ref16","doi-asserted-by":"crossref","unstructured":"Dinleyici EC, Tekin N, Dinleyici M, Aksit MA. Clinical and laboratory findings of two newborns with Wiedemann-Rautenstrauch syndrome: additional features, evaluation of bone turnover and review of the literature. J Pediatr Endocrinol Metab. 2008;21(6):591-6","DOI":"10.1515\/jpem-2008-210614"},{"key":"ref17","doi-asserted-by":"crossref","unstructured":"Hoppen T, Naumann A, Theile U, Rister M. Geschwisterpaar mit neonatalem progeroidem Syndrom (Wiedemann-Rautenstrauch) [Siblings with neonatal progeroid syndrome (Wiedemann-Rautenstrauch)]. Klin Padiatr. 2004;216(2):70-1. doi: https:\/\/doi.org\/10.1055\/s-2004-44895","DOI":"10.1055\/s-2004-44895"},{"key":"ref18","doi-asserted-by":"crossref","unstructured":"O\u2019Neill B, Simha V, Kotha V, Garg A. Body fat distribution and metabolic variables in patients with neonatal progeroid syndrome. Am J Med Genet A. 2007;143A(13):1421-30. doi: https:\/\/doi.org\/10.1002\/ajmg.a.31840","DOI":"10.1002\/ajmg.a.31840"},{"key":"ref19","doi-asserted-by":"crossref","unstructured":"Nowaczyk MJ, Hughes HE, Costa T, Clarke JT. Severe prenatal growth retardation, dysmorphic features, pigmentary retinopathy, and generalized absence of subcutaneous tissues: a new entity? Clin Dysmorphol. 1998;7(4):263-8. doi: https:\/\/doi.org\/10.1097\/00019605-199810000-00005","DOI":"10.1097\/00019605-199810000-00005"},{"key":"ref20","doi-asserted-by":"crossref","unstructured":"Bitoun P, Lachassine E, Sellier N, et al. The Wiedemann-Rautenstrauch neonatal progeroid syndrome: a case report and review of the literature. Clin Dysmorphol. 1995;4(3):239-45","DOI":"10.1097\/00019605-199507000-00008"},{"key":"ref21","doi-asserted-by":"crossref","unstructured":"Rabah M. Shawky, Heba Salah Abd-Elkhalek, Shimaa Gad, Neveen S. Seifeldin. Neonatal progeroid syndrome (Wiedemann-Rautenstrauch syndrome) in an Egyptian child with premature loss of teeth, and caf\u00e9 au lait skin patches. Egyptian Journal of Medical Human Genetics, Volume 13, Issue 2, 2012, Pages 227-231, ISSN: 1110-8630","DOI":"10.1016\/j.ejmhg.2012.03.008"},{"key":"ref22","doi-asserted-by":"crossref","unstructured":"Toriello HV. Wiedemann-Rautenstrauch syndrome. J Med Genet. 1990;27(4):256-7. doi: https:\/\/doi.org\/10.1136\/jmg.27.4.256","DOI":"10.1136\/jmg.27.4.256"},{"key":"ref23","doi-asserted-by":"crossref","unstructured":"Thorey F, J\u00e4ger M, Seller K, Krauspe R, Wild A. Kyphoskoliose beim Wiedemann-Rautenstrauch-Syndrom (neonatales Progerie Syndrom) [Kyphoscoliosis in Wiedemann-Rautenstrauch-syndrome (neonatal progeroid syndrome)]. Z Orthop Ihre Grenzgeb. 2003;141(3):341-4. German. doi: https:\/\/doi.org\/10.1055\/s-2003-40084","DOI":"10.1055\/s-2003-40084"},{"key":"ref24","doi-asserted-by":"crossref","unstructured":"DeBusk FL. The Hutchinson-Gilford progeria syndrome. Report of 4 cases and review of the literature. J Pediatr. 1972;80(4):697-724","DOI":"10.1016\/S0022-3476(72)80229-4"},{"key":"ref25","doi-asserted-by":"crossref","unstructured":"Kreienkamp R, Gonzalo S. Metabolic Dysfunction in Hutchinson-Gilford Progeria Syndrome. Cells. 2020;9(2):395","DOI":"10.3390\/cells9020395"},{"key":"ref26","doi-asserted-by":"crossref","unstructured":"Agarwal US, Sitaraman S, Mehta S, Panse G. Hutchinson-Gilford progeria syndrome. Indian J Dermatol Venereol Leprol. 2010;76(5):591","DOI":"10.4103\/0378-6323.69094"},{"key":"ref27","doi-asserted-by":"crossref","unstructured":"Jacquinet A, Verloes A, Callewaert Bet al. Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3\u2019 end of FBN1 gene. Eur J Med Genet. 2014;57(5):230-4. doi: https:\/\/doi.org\/10.1016\/j.ejmg.2014.02.012","DOI":"10.1016\/j.ejmg.2014.02.012"},{"key":"ref28","doi-asserted-by":"crossref","unstructured":"Passarge E, Robinson P, Graul-Neumann L. Marfanoid\u2013progeroid\u2013lipodystrophy syndrome: a newly recognized fibrillinopathy. Eur J Hum Genet. 2016;24:1244-1247.","DOI":"10.1038\/ejhg.2016.6"},{"key":"ref29","doi-asserted-by":"crossref","unstructured":"Braddock SR, Ardinger HH, Yang CS, Paschal BM, Hall BD. Petty syndrome and Fontaine-Farriaux syndrome: Delineation of a single syndrome. Am J Med Genet A. 2010;152A(7):1718-23. doi: https:\/\/doi.org\/10.1002\/ajmg.a.33468","DOI":"10.1002\/ajmg.a.33468"},{"key":"ref30","doi-asserted-by":"crossref","unstructured":"Lally S, Walsh N, Kenny J, et al. Fontaine progeroid syndrome-A case report. Clin Case Rep. 2022;10(9):e6291. doi: https:\/\/doi.org\/10.1002\/ccr3.6291","DOI":"10.1002\/ccr3.6291"},{"key":"ref31","doi-asserted-by":"crossref","unstructured":"Jacquinet A, Verloes A, Callewaert B, et al. Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3\u2019 end of FBN1 gene. Eur J Med Genet. 2014 Apr;57(5):230-4. doi: https:\/\/doi.org\/10.1016\/j.ejmg.2014.02.012","DOI":"10.1016\/j.ejmg.2014.02.012"},{"key":"ref32","doi-asserted-by":"crossref","unstructured":"Passarge E, Robinson P, Graul-Neumann L. Marfanoid\u2013progeroid\u2013lipodystrophy syndrome: a newly recognized fibrillinopathy. Eur J Hum Genet. 2016;24:1244-1247.","DOI":"10.1038\/ejhg.2016.6"},{"key":"ref33","doi-asserted-by":"crossref","unstructured":"Braddock SR, Ardinger HH, Yang CS, Paschal BM, Hall BD. Petty syndrome and Fontaine-Farriaux syndrome: Delineation of a single syndrome. Am J Med Genet A. 2010;152A(7):1718-23. doi: https:\/\/doi.org\/10.1002\/ajmg.a.33468","DOI":"10.1002\/ajmg.a.33468"},{"key":"ref34","doi-asserted-by":"crossref","unstructured":"Kreienkamp R, Gonzalo S. Metabolic Dysfunction in Hutchinson-Gilford Progeria Syndrome. Cells. 2020;9(2):395","DOI":"10.3390\/cells9020395"},{"key":"ref35","doi-asserted-by":"crossref","unstructured":"Agarwal US, Sitaraman S, Mehta S, Panse G. Hutchinson-Gilford progeria syndrome. Indian J Dermatol Venereol Leprol. 2010;76(5):591","DOI":"10.4103\/0378-6323.69094"},{"key":"ref36","doi-asserted-by":"crossref","unstructured":"Rautenstrauch T, Snigula F, Wiedemann HR. Neonatales progeroides Syndrom (Wiedemann-Rautenstrauch). Eine follow-up-Studie [Neonatal progeroid syndrome (Wiedemann-Rautenstrauch). A follow-up study]. Klin Padiatr. 1994;206(6):440-3. doi: https:\/\/doi.org\/10.1055\/s-2008-1046647","DOI":"10.1055\/s-2008-1046647"},{"key":"ref37","unstructured":"The Progeria Handbook \u00abA Guide for Families & Health Care Providers of Children with Progeria\u00bb, 2nd Edition, www.progeriaresearch.org"}],"container-title":["Problems of Endocrinology"],"original-title":[],"link":[{"URL":"https:\/\/www.probl-endojournals.ru\/jour\/article\/viewFile\/13369\/10652","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,5,22]],"date-time":"2024-05-22T11:20:19Z","timestamp":1716376819000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.probl-endojournals.ru\/jour\/article\/view\/13369"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,10,8]]},"references-count":37,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2024,5,20]]}},"URL":"https:\/\/doi.org\/10.14341\/probl13369","relation":{},"ISSN":["2308-1430","0375-9660"],"issn-type":[{"value":"2308-1430","type":"electronic"},{"value":"0375-9660","type":"print"}],"subject":[],"published":{"date-parts":[[2023,10,8]]}}}