Wiedemann-Rautenstrauch syndrome. The first description of a clinical case in the Russian Federation
https://doi.org/10.14341/probl13369
Abstract
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.
About the Authors
A. L. Kungurtseva
I.M. Sechenov First Moscow State Medical University (Sechenov University)
Russian Federation
Competing Interests:
Russian Federation
Anastasiia L. Kungurtseva
8 Trubetskaya St., bld.2, 119991, Moscow
Competing Interests:
Авторы декларируют отсутствие явных и потенциальных конфликтов интересов, связанных с содержанием настоящей статьи.
A. V. Popovich
I.M. Sechenov First Moscow State Medical University (Sechenov University)
Russian Federation
Competing Interests:
Russian Federation
Anastasiia V. Popovich, MD
Moscow
Competing Interests:
Авторы декларируют отсутствие явных и потенциальных конфликтов интересов, связанных с содержанием настоящей статьи.
Y. V. Tikhonovich
I.M. Sechenov First Moscow State Medical University (Sechenov University)
Russian Federation
Competing Interests:
Russian Federation
Yulia V. Tikhonovich, MD, PhD
Moscow
Competing Interests:
Авторы декларируют отсутствие явных и потенциальных конфликтов интересов, связанных с содержанием настоящей статьи.
A. V. Vitebskaya
I.M. Sechenov First Moscow State Medical University (Sechenov University)
Russian Federation
Competing Interests:
Russian Federation
Alisa V. Vitebskaya, MD , PhD
Moscow
Competing Interests:
Авторы декларируют отсутствие явных и потенциальных конфликтов интересов, связанных с содержанием настоящей статьи.
References
1. Toriello HV. Wiedemann-Rautenstrauch syndrome. J Med Genet. 1990;27(4):256-7. doi: https://doi.org/10.1136/jmg.27.4.256
2. 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
3. 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
4. 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® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023
5. 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
6. Rautenstrauch T, Snigula F, Krieg T, et al. Progeria: A cell culture study and clinical report of familial incidence. Eur J Pediatr.1977;124:101–111.
7. Wiedemann, H.R. An unidentified neonatal progeroid syndrome: Follow-up report. Eur J Pediatr.1979;130:65–70.
8. 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
9. Báez-Becerra CT, Valencia-Rincón E, Velásquez-Méndez 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
10. 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
11. 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
12. 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
13. 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
14. Castiñeyra 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
15. 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
16. 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
17. 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
18. O’Neill 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
19. 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
20. 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
21. 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 café au lait skin patches. Egyptian Journal of Medical Human Genetics, Volume 13, Issue 2, 2012, Pages 227-231, ISSN: 1110-8630
22. Toriello HV. Wiedemann-Rautenstrauch syndrome. J Med Genet. 1990;27(4):256-7. doi: https://doi.org/10.1136/jmg.27.4.256
23. Thorey F, Jäger 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
24. DeBusk FL. The Hutchinson-Gilford progeria syndrome. Report of 4 cases and review of the literature. J Pediatr. 1972;80(4):697-724
25. Kreienkamp R, Gonzalo S. Metabolic Dysfunction in Hutchinson-Gilford Progeria Syndrome. Cells. 2020;9(2):395
26. Agarwal US, Sitaraman S, Mehta S, Panse G. Hutchinson-Gilford progeria syndrome. Indian J Dermatol Venereol Leprol. 2010;76(5):591
27. Jacquinet A, Verloes A, Callewaert Bet al. Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3’ end of FBN1 gene. Eur J Med Genet. 2014;57(5):230-4. doi: https://doi.org/10.1016/j.ejmg.2014.02.012
28. Passarge E, Robinson P, Graul-Neumann L. Marfanoid–progeroid–lipodystrophy syndrome: a newly recognized fibrillinopathy. Eur J Hum Genet. 2016;24:1244-1247.
29. 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
30. 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
31. Jacquinet A, Verloes A, Callewaert B, et al. Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3’ 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
32. Passarge E, Robinson P, Graul-Neumann L. Marfanoid–progeroid–lipodystrophy syndrome: a newly recognized fibrillinopathy. Eur J Hum Genet. 2016;24:1244-1247.
33. 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
34. Kreienkamp R, Gonzalo S. Metabolic Dysfunction in Hutchinson-Gilford Progeria Syndrome. Cells. 2020;9(2):395
35. Agarwal US, Sitaraman S, Mehta S, Panse G. Hutchinson-Gilford progeria syndrome. Indian J Dermatol Venereol Leprol. 2010;76(5):591
36. 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
37. The Progeria Handbook «A Guide for Families & Health Care Providers of Children with Progeria», 2nd Edition, www.progeriaresearch.org
Supplementary files
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1. Figure 1. Patient aged 1 year 3 months. | |
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2. Figure 2. Growth graph. | |
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3. Figure 3. BMI graph. | |
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4. Figure 4. Patient aged 6 years 5 months. | |
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5. Figure 5. Isolated area of redistribution of subcutaneous fat in the coccygeal region. | |
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6. Figure 6. Transverse palmar fold on the right. | |
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7. Figure 7. Development of fine motor skills in the patient. | |
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For citations:
Kungurtseva A.L., Popovich A.V., Tikhonovich Y.V., Vitebskaya A.V. Wiedemann-Rautenstrauch syndrome. The first description of a clinical case in the Russian Federation. Problems of Endocrinology. 2024;70(2):86-93. (In Russ.) https://doi.org/10.14341/probl13369
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