Wiedemann–Rautenstrauch syndrome: A phenotype analysis

American Journal of Medical Genetics, Part A

Volumn 173, Issue 7, 2017, Pages 1763-1772

  Paolacci, Stefano ^a   Bertola, Debora ^b   Franco, José ^b   Mohammed, Shehla ^c   Tartaglia, Marco ^d   Wollnik, Bernd ^e   Hennekam, Raoul C ^f  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

^b UNIVERSITY OF SÃO PAULO   (Brazil)

^c GUY S HOSPITAL   (United Kingdom)

^d BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^e UNIVERSITY MEDICAL CENTER GÖTTINGEN   (Germany)

^f UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

4H syndrome; autosomal recessive; cerebellar hypoplasia endosteal sclerosis; lipodystrophy; POLR3A; POLR3B; Wiedemann Rautenstrauch syndrome

Indexed keywords

ADULT; ARTICLE; ATAXIA; BECKWITH WIEDEMANN SYNDROME; CLINICAL ARTICLE; CONTROLLED STUDY; FAT MASS; FEMALE; GENE FUNCTION; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC VARIABILITY; GOLD STANDARD; GROWTH RETARDATION; HUMAN; LIPODYSTROPHY; MALE; PHENOTYPE; POLR3A GENE; PRIORITY JOURNAL; TREMOR;

EID: 85018703079     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.38246     Document Type: Article

References (86)

1. Abdel-Salam, G. M., & Czeizel, A. E. (1999). A new case of neonatal progeroid syndrome with agenesis of corpus callosum. Genetic Counseling, 10, 377–381.
2. Akawi, N., Ali, B., & Al Gazali, L. (2013). A progeroid syndrome with neonatal presentation and long survival maps to 19p13.3p13.2. Birth Defects Research Part A Clinical and Molecular Teratology, 97, 456–462.
3. Almeida, P., Hernández, J., Marti, M., & Hernández, B. (2005). What syndrome is this? Wiedemann–Rautenstrauch syndrome. Pediatric Dermatology, 22, 75–78.
4. Arai-Ichinoi, N., Uematsu, M., Sato, R., Suzuki, T., Kudo, H., Kikuchi, A., … Kure, S. (2016). Genetic heterogeneity in 26 infants with a hypomyelinating leukodystrophy. Human Genetics, 135, 89–98.
5. Arboleda, H., Quintero, L., & Yunis, E. (1997). Wiedemann–Rautenstrauch neonatal progeroid syndrome: Report of three new patients. Journal of Medical Genetics, 34, 433–437.
6. Arboleda, H., & Arboleda, G. (2005). Follow-up study of Wiedemann–Rautenstrauch syndrome: Long-term survival and comparison with Rautenstrauch's patient “G”. Birth Defects Research Part A Clinical and Molecular Teratology, 73, 562–568.
7. Arboleda, G., Morales, L. C., Quintero, L., & Arboleda, H. (2011). Neonatal progeroid syndrome (Wiedemann–Rautenstrauch syndrome): report of three affected sibs. American Journal of Medical Genetics Part A, 155A, 1712–1715.
8. Azmanov, D. N., Siira, S. J., Chamova, T., Kaprelyan, A., Guergueltcheva, V., Shearwood, A. J., … Filipovska, A. (2016). Transcriptome-wide effects of a POLR3A gene mutation in patients with an unusual phenotype of striatal involvement. Human Molecular Genetics, 25, 4302–4314.
9. Barkley, M. R., & O'Hagan, S. B. (2015). Ophthalmic manifestations in a case of Wiedemann–Rautenstrauch syndrome. Journal of AAPOS, 19, 559–561.
10. Becerra, C. H., Contreras-García, G. A., Perez Vera, L. A., Díaz-Martínez, L. A., Beltran Avendaño, M. A., & Salazar Martínez, H. A. (2014). Wiedemann–Rautenstrauch syndrome prenatal diagnosis. Journal of Perinatology, 34, 954–956.
11. Bernard, G., Chouery, E., Putorti, M. L., Tétreault, M., Takanohashi, A., Carosso, G., … Brais, B. (2011). Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy. American Journal of Human Genetics, 89, 415–423.
12. Bitoun, P., Lachassine, E., Sellier, N., Sauvion, S., & Gaudelus, J. (1995). The Wiedemann–Rautenstrauch neonatal progeroid syndrome: A case report and review of the literature. Clinical Dysmorphology, 4, 239–245.
13. Cao, H., & Hegele, R. A. (2003). LMNA is mutated in Hutchinson–Gilford progeria (MIM 176670) but not in Wiedemann–Rautenstrauch progeroid syndrome (MIM 264090). Journal of Human Genetics, 48, 271–274.
14. Castiñeyra, G., Panal, M., Lopez Presas, H., Goldschmidt, E., & Sánchez, J. M. (1992). Two sibs with Wiedemann–Rautenstrauch syndrome: Possibilities of prenatal diagnosis by ultrasound. Journal of Medical Genetics, 29, 434–436.
15. Cayami, F. K., La Piana, R., van Spaendonk, R. M., Nickel, M., Bley, A., Guerrero, K., … Wolf, N. I. (2015). POLR3A and POLR3B mutations in unclassified hypomyelination. Neuropediatrics, 46, 221–228.
16. Charrow, J., Poznanski, A. K., Unger, F. M., & Robinow, M. (1991). Autosomal recessive cerebellar hypoplasia and endosteal sclerosis: A newly recognized syndrome. American Journal of Medical Genetics, 41, 464–468.
17. Chessa, L., Bastianon, V., Del Porto, G., Nardo, T., & Stefanini, M. (1992). Cytogenetic and DNA repair studies in a patient affected by the neonatal progeroid syndrome. Annals of the New York Academy of Sciences, 663, 423–425.
18. Courtens, W., Nuytinck, L., Fricx, C., André, J., & Vamos, E. (1997). A probable case of Wiedemann–Rautenstrauch syndrome or neonatal progeroid syndrome and review of the literature. Clinical Dysmorphology, 6, 219–227.
19. Daoud, H., Tétreault, M., Gibson, W., Guerrero, K., Cohen, A., Gburek-Augustat, J., … Bernard, G. (2013). Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism. Journal of Medical Genetics, 50, 194–197.
20. Delatycki, M. B., Cleary, M. A., Bankier, A., McDougall, P. N., Ahluwalia, J. S., Chow, C. W., & Cooke-Yarborough, C. M. (1997). A maternally transmitted lethal neonatal progeroid syndrome with prominent genitourinary and gastrointestinal features. Journal of Medical Genetics, 34, 520–524.
21. Devos, E. A., Leroy, J. G., Frijns, J. P., & Van den Berghe, H. (1981). The Wiedemann–Rautenstrauch or neonatal progeroid syndrome. Report of a patient with consanguineous parents. European Journal of Pediatrics, 136, 245–248.
22. Dinleyici, E. C., Tekin, N., Dinleyici, M., & Aksit, M. A. (2008). Clinical and laboratory findings of two newborns with Wiedemann–Rautenstrauch syndrome: Additional features, evaluation of bone turnover and review of the literature. Journal of Pediatric Endocrinology and Metabolism, 21, 591–596.
23. Garg, A., & Xing, C. (2014). De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy. American Journal of Medical Genetics Part A, 164A, 1341–1345.
24. Gattoo, I., Singh, S., & Aziz, N. (2015). Neonatal progeroid syndrome (Weidman –Rautenstrauch syndrome): A case report from jammu and kashmir, India. International Journal of Pediatrics, 15, 93–97.
25. Ghoumid, J., Frenois, F., Caumes, R., Petit, F., de Roux, N., & Manouvrier-Hanu, S. Confirmation of POLR3B mutations as cause of Cerebellar Hypoplasia with Endosteal Sclerosis (submitted).
26. Goldblatt, J., Hyatt, J., Edwards, C., & Walpole, I. (2011). Further evidence for a marfanoid syndrome with neonatal progeroid features and severe generalized lipodystrophy due to frameshift mutations near the 3' end of the FBN1 gene. American Journal of Medical Genetics Part A, 155A, 717–720.
27. Graul-Neumann, L. M., Kienitz, T., Robinson, P. N., Baasanjav, S., Karow, B., Gillessen-Kaesbach, G., … Passarge, E. (2010). Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene. American Journal of Medical Genetics Part A, 152A, 2749–2755.
28. Gutierrez, M., Thiffault, I., Guerrero, K., Martos-Moreno, G., Tran, L. T., Benko, W., … Bernard, G. (2015). Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy. Orphanet Journal of Rare Diseases, 5(10), 69.
29. Hagadorn, J. I., Wilson, W. G., Hogge, W. A., Callicott, J. H., & Beale, E. F. (1990). Neonatal progeroid syndrome: More than one disease? American Journal of Medical Genetics, 35, 91–94.
30. Hennekam, R. C. (2007). What to call a syndrome. American Journal of Medical Genetics Part A, 143A, 1021–1024.
31. Hermanns, H., Lipfert, P., Ladda, S., & Stevens, M. F. (2006). Propofol infusion syndrome during anaesthesia for scoliosis surgery in an adolescent with neonatal progeroid syndrome. Acta Anaesthesiologica Scandinavica, 50, 392–394.
32. Hoppen, T., Hausser, I., Theile, U., Ferrari, R., Müller, W., & Rister, M. (2000). Neonatal progeroid syndrome (Wiedemann–Rautenstrauch syndrome): Case report and review of the literature. Klinische Padiatrie, 212, 71–76.
33. Hoppen, T., Naumann, A., Theile, U., & Rister, M. (2004). Siblings with neonatal progeroid syndrome (Wiedemann–Rautenstrauch). Klinische Padiatrie, 216, 70–71.
34. Horn, D., & Robinson, P. N. (2011). Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene. American Journal of Medical Genetics Part A, 155A, 721–724.
35. Hou, J. W. (2009). Natural course of neonatal progeroid syndrome. Pediatrics & Neonatology, 50, 102–109.
36. Hou, J. W., & Wang, T. R. (1995). Clinical variability in neonatal progeroid syndrome. American Journal of Medical Genetics, 58, 195–196.
37. Jacquinet, A., Verloes, A., Callewaert, B., Coremans, C., Coucke, P., de Paepe, A., … Debray, F. G. (2014). Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene. European Journal of Medical Genetics, 57, 230–234.
38. Jäger, M., Thorey, F., Westhoff, B., Wild, A., & Krauspe, R. (2005). In vitro osteogenic differentiation is affected in Wiedemann–Rautenstrauch-Syndrome (WRS). In Vivo, 19, 831–836.
39. Jay, A. M., Conway, R. L., Thiffault, I., Saunders, C., Farrow, E., Adams, J., & Toriello, H. V. (2016). Neonatal progeroid syndrome associated with biallelic truncating variants in POLR3A. American Journal of Medical Genetics Part A, 170A, 3343–3346.
40. Jurkiewicz, E., Dunin-Wąsowicz, D., Gieruszczak-Białek, D., Malczyk, K., Guerrero, K., Gutierrez, M., … Bernard, G. (2015). Recessive mutations in POLR3B encoding RNA polymerase III subunit causing diffuse hypomyelination in patients with 4H leukodystrophy with polymicrogyria and cataracts. Clinical Neuroradiology [Epub ahead of print].
41. Kárteszi, J., Kosztolányi, G., Czakó, M., Hadzsiev, K., & Morava, E. (2006). Transient progeroid phenotype and lipodystrophy in mosaic polyploidy. Clinical Dysmorphology, 15, 29–31.
42. Kiraz, A., Ozen, S., Tubas, F., Usta, Y., Aldemir, O., & Alanay, Y. (2012). Wiedemann–Rautenstrauch syndrome: Report of a variant case. American Journal of Medical Genetics Part A, 158A, 1434–1436.
43. Korniszewski, L., Nowak, R., Oknińska-Hoffmann, E., Skórka, A., Gieruszczak-Białek, D., & Sawadro-Rochowska, M. (2001). Wiedemann–Rautenstrauch (neonatal progeroid) syndrome: New case with normal telomere length in skin fibroblasts. American Journal of Medical Genetics, 103, 144–148.
44. La Piana, R., Tonduti, D., Gordish Dressman, H., Schmidt, J. L., Murnick, J., Brais, B., … Vanderver, A. (2014). Brain magnetic resonance imaging (MRI) pattern recognition in Pol III-related leukodystrophies. Journal of Child Neurology, 29, 214–220.
45. La Piana, R., Cayami, F. K., Tran, L. T., Guerrero, K., van Spaendonk, R., Õunap, K., … Bernard, G. (2016). Diffuse hypomyelination is not obligate for POLR3-related disorders. Neurology, 86(17), 1622–1626.
46. Martin, J. J., Ceuterick, C. M., Leroy, J. G., Devos, E. A., & Roelens, J. G. (1984). The Wiedemann–Rautenstrauch or neonatal progeroid syndrome. Neuropathological study of a case. Neuropediatrics, 15, 43–48.
47. Mégarbané, A., & Loiselet, J. (1997). Clinical manifestation of a severe neonatal progeroid syndrome. Clinical Genetics, 51, 200–204.
48. Morales, L. C., Arboleda, G., Rodríguez, Y., Forero, D. A., Ramírez, N., Yunis, J. J., & Arboleda, H. (2009). Absence of Lamin A/C gene mutations in four Wiedemann–Rautenstrauch syndrome patients. American Journal of Medical Genetics Part A, 149A, 2695–2699.
49. Narayan, J. P., Garg, P., Pareek, G., & Narayan, S. (2011). Wiedemann–Rautenstrauch syndrome. Indian Pediatrics, 48, 731–732.
50. Nowak, R., Sawadro-Rochowska, M., Siwicki, J. K., & Korniszewski, L. (2006). Wiedemann–Rautenstrauch syndrome's fibroblasts display a normal in vitro lifespan. American Journal of Medical Genetics Part A, 140A, 661–662.
51. Nowaczyk, M. J., Hughes, H. E., Costa, T., & Clarke, J. T. (1998). Severe prenatal growth retardation, dysmorphic features, pigmentary retinopathy, and generalized absence of subcutaneous tissues: A new entity? Clinical Dysmorphology, 7, 263–268.
52. Obregon, M. G., Bergami, G. L., Giannotti, A., Digilio, M. C., Virgili, Q., Guadagni, A. M., … Dallapiccola, B. (1992). Radiographic findings in Wiedemann-Rautenstrauch syndrome. Pediatric Radiology, 22, 474–475.
53. Ohashi, H., Eguchi, T., & Kaji, T. (1987). Neonatal progeroid syndrome: Report of a Japanese infant. Jinrui Idengaku Zasshi, 32, 253–256.
54. O'Neill, B., Simha, V., Kotha, V., & Garg, A. (2007). Body fat distribution and metabolic variables in patients with neonatal progeroid syndrome. American Journal of Medical Genetics Part A, 143A, 1421–1430.
55. Ozgen, H. M., Overweg-Plandsoen, W. C., Blees-Pelk, J., Besselaar, P. P., & Hennekam, R. C. (2005). Cerebellar hypoplasia-endosteal sclerosis: A long term follow-up. American Journal of Medical Genetics Part A, 134A, 215–219.
56. Pandey, M., Gupta, N., Kabra, M., Kumar, A., Datta, V., & Saili, A. (2011). Wiedemann–Rautenstrauch syndrome: First Indian case. Indian Journal of Pediatrics, 78, 1552–1555.
57. Passarge, E., Robinson, P. N., & Graul-Neumann, L. M. (2016). Marfanoid-progeroid- lipodystrophy syndrome: A newly recognized fibrillinopathy. European Journal of Human Genetics, 24, 1244–1247.
58. Pivnick, E. K., Angle, B., Kaufman, R. A., Hall, B. D., Pitukcheewanont, P., Hersh, J. H., … Ward, J. C. (2000). Neonatal progeroid (Wiedemann–Rautenstrauch) syndrome: Report of five new cases and review. American Journal of Medical Genetics, 90, 131–140.
59. Potic, A., Brais, B., Choquet, K., Schiffmann, R., & Bernard, G. (2012). 4H syndrome with late-onset growth hormone deficiency caused by POLR3A mutations. Archives of Neurology, 69, 920–923.
60. Rautenstrauch, T., & Snigula, F. (1977). Progeria: A cell culture study and clinical report of familial incidence. European Journal of Pediatrics, 124, 101–111.
61. Rautenstrauch, T., Snigula, F., & Wiedemann, H. R. (1994). Neonatal progeroid syndrome (Wiedemann–Rautenstrauch). A follow-up study. Klinische Padiatrie, 206, 440–443.
62. Richards, M. R., Plummer, L., Chan, Y. M., Lippincott, M. F., Quinton, R., Kumanov, P., & Seminara, S. B. (2017). Phenotypic spectrum of POLR3B mutations: Isolated hypogonadotropic hypogonadism without neurological or dental anomalies. Journal of Medical Genetics, 54, 19–25.
63. Romere, C., Duerrschmid, C., Bournat, J., Constable, P., Jain, M., Xia, F., … Chopra, A. R. (2016). Asprosin, a fasting-induced glucogenic protein hormone. Cell, 165, 566–579.
64. Rudin, C., Thommen, L., Fliegel, C., Steinmann, B., & Bühler, U. (1988). The neonatalpseudo-hydrocephalic progeroid syndrome (Wiedemann–Rautenstrauch). Report of a new patient and review of the literature. European Journal of Pediatrics, 147, 433–438.
65. Sahay, N., Bhalotra, A., Saini, G., & Dhanda, A. (2015). Anesthesia in an aging infant: Neonatal progeroid syndrome. Case Report, 5, 173–175.
66. Saitsu, H., Osaka, H., Sasaki, M., Takanashi, J., Hamada, K., Yamashita, A., … Matsumoto, N. (2011). Mutations in POLR3A and POLR3B encoding RNA polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy. American Journal of Human Genetics, 89, 644–651.
67. Shawky, R. M., Abd-Elkhalek, H. S., Gad, S., & Seifeldin, N. S. (2012). 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, 13, 227–231.
68. Shima, T., Fujimoto, T., Miyazaki, T., & Nonaka, F. (2016). A case of POL III-related leukodystrophy with homozygous mutation in POLR3A. Brain and Nerve, 68, 1393–1397.
69. Shimojima, K., Shimada, S., Tamasaki, A., Akaboshi, S., Komoike, Y., Saito, A., … Yamamoto, T. (2014). Novel compound heterozygous mutations of POLR3A revealed by whole-exome sequencing in a patient with hypomyelination. Brain and Development, 36, 315–321.
70. Snigula, F., & Rautenstrauch, T. (1981). A new neonatal progeroid syndrome. European Journal of Pediatrics, 136, 325.
71. Stoll, C., Labay, F., Geisert, J., & Alembik, Y. (1998). Wiedemann–Rautenstrauch syndrome. A case report and review of the literature. Genetic Counseling, 9, 119–124.
72. Stoll, C., Talon, P., Alembik, Y., & Levy, J. M. (1986). Congenital cerebellar hypoplasia with bone lesions. Annales De Pediatrie, 33, 417–421.
73. Takanashi, J., Osaka, H., Saitsu, H., Sasaki, M., Mori, H., Shibayama, H., … Barkovich, A. J. (2014). Different patterns of cerebellar abnormality and hypomyelination between POLR3A and POLR3B mutations. Brain and Development, 36, 259–263.
74. Takenouchi, T., Hida, M., Sakamoto, Y., Torii, C., Kosaki, R., Takahashi, T., & Kosaki, K. (2013). Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype. American Journal of Medical Genetics Part A, 161A, 3057–3062.
75. Tamura, A., Niwa, A., Ii, Y., Sasaki, R., Tomimoto, H., & Saitsu, H. (2013). A case of hypomyelinating leukodystrophy with new homozygous mutation in POLR3A. Rinsho Shinkeigaku, 53, 624–629.
76. Terao, Y., Saitsu, H., Segawa, M., Kondo, Y., Sakamoto, K., Matsumoto, N., … Nomura, Y. (2012). Diffuse central hypomyelination presenting as 4H syndrome caused by compound heterozygous mutations in POLR3A encoding the catalytic subunit of polymerase III. Journal of the Neurological Sciences, 320, 102–105.
77. Tétreault, M., Choquet, K., Orcesi, S., Tonduti, D., Balottin, U., Teichmann, M., … Bernard, G. (2011). Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy. American Journal of Human Genetics, 89, 652–655.
78. Thiffault, I., Wolf, N. I., Forget, D., Guerrero, K., Tran, L. T., Choquet, K., … Bernard, G. (2015). Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III. Nature Communications, 6, 7623.
79. Thorey, F., Jäger, M., Seller, K., Krauspe, R., & Wild, A. (2003). Kyphoscoliosis in Wiedemann–Rautenstrauch syndrome (neonatal progeroid syndrome). Zeitschrift Fur Orthopadie Und Ihre Grenzgebiete, 141, 341–344.
80. Tunc, T., Bulbul, A., Erdinc, K., Sarici, S. U., Gul, D., & Ozcan, O. (2009). The Wiedemann–Rautenstrauch or neonatal progeroid syndrome: Report of a patient with hypospadias. Genetic Counseling, 20, 367–371.
81. Ulrich, J., Rudin, C., Bubl, R., & Riederer, B. M. (1995). The neonatal progeroid syndrome (Wiedemann–Rautenstrauch) and its relationship to Pelizaeus–Merzbacher's disease. Neuropathology and Applied Neurobiology, 21, 116–120.
82. Vanderver, A., Tonduti, D., Bernard, G., Lai, J., Rossi, C., Carosso, G., … Schiffmann, R. (2013). More than hypomyelination in Pol-III disorder. Journal of Neuropathology and Experimental Neurology, 72, 67–75.
83. Wiedemann, H. R. (1979). An unidentified neonatal progeroid syndrome: Follow-up report. European Journal of Pediatrics, 130, 65–70.
84. Wolf, N. I., Vanderver, A., van Spaendonk, R. M., Schiffmann, R., Brais, B., Bugiani, M., … 4H Research Group. (2014). Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations. Neurology, 83, 1898–1905.
85. Yazici, B. (2014). Another case of neonatal progeroid syndrome and bilateral congenital upper eyelid entropion. Ophthalmic Plastic and Reconstructive Surgery, 30, 356–357.
86. Yazici, B., Toka, F., & Çömez, A. T. (2014). Anatomical characteristics and surgical treatment of bilateral congenital upper eyelid entropion in an infant with neonatal progeroid syndrome. Ophtalmology Plastic and Reconstructive Surgery, 30, e164–e166.