Prenatal findings and the genetic diagnosis of fetal overgrowth disorders: Simpson-Golabi-Behmel syndrome, Sotos syndrome, and Beckwith-Wiedemann syndrome

Taiwanese Journal of Obstetrics and Gynecology

Volumn 51, Issue 2, 2012, Pages 186-191

  Chen, Chih Ping ^a,b,c,d,e  

^a MACKAY MEDICAL COLLEGE   (Taiwan)

^b MACKAY MEMORIAL HOSPITAL   (Taiwan)

^c ASIA UNIVERSITY   (Taiwan)

^d CHINA MEDICAL UNIVERSITY   (Taiwan)

^e NATIONAL YANG MING UNIVERSITY   (Taiwan)

Author keywords

Beckwith Wiedemann syndrome; Fetus; Overgrowth; Simpson Golabi Behmel syndrome; Sotos syndrome

Indexed keywords

ALPHA FETOPROTEIN; CYCLIN DEPENDENT KINASE INHIBITOR 1C; GLYPICAN 3; SONIC HEDGEHOG PROTEIN;

AMNIOCENTESIS; BECKWITH WIEDEMANN SYNDROME; COMPARATIVE GENOMIC HYBRIDIZATION; CYTOGENETICS; DNA METHYLATION; FERTILIZATION IN VITRO; FETUS ECHOGRAPHY; FRAMESHIFT MUTATION; GENE CLUSTER; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; GESTATIONAL AGE; HUMAN; HYDRAMNIOS; INTRACYTOPLASMIC SPERM INJECTION; JOUBERT SYNDROME; KARYOTYPE 46,XY; MACROCEPHALY; MACROGLOSSIA; MACROSOMIA; NEUROIMAGING; OMPHALOCELE; OPEN READING FRAME; PHENOTYPE; PRENATAL DIAGNOSIS; REVIEW; SIGNAL TRANSDUCTION; SIMPSON GOLABI BEHMEL SYNDROME; SOTOS SYNDROME; UNIPARENTAL DISOMY; X CHROMOSOME;

ARRHYTHMIAS, CARDIAC; BECKWITH-WIEDEMANN SYNDROME; GENETIC DISEASES, X-LINKED; GIGANTISM; HEART DEFECTS, CONGENITAL; HUMANS; INTELLECTUAL DISABILITY; PRENATAL DIAGNOSIS; SOTOS SYNDROME;

EID: 84863863684     PISSN: 10284559     EISSN: 18756263     Source Type: Journal    
DOI: 10.1016/j.tjog.2012.04.004     Document Type: Review

References (71)

1. Simpson J.L., Landey S., New M., German J. A previously unrecognized X-linked syndrome of dysmorphia. Birth Defects Orig Artic Ser XI 1975, 18-24.
2. Behmel A., Ploch E., Rosenkranz W. A new X-linked dysplasia gigantism syndrome: identical with the Simpson dysplasia syndrome?. Hum Genet 1984, 67:409-413.
3. Golabi M., Rosen L. A new X-linked mental retardation overgrowth syndrome. Am J Med Genet 1984, 17:345-358.
4. Neri G., Marini R., Cappa M., Borrelli P., Opitz J.M. Simpson-Golabi-Behmel syndrome: an X-linked encephalo-tropho-schisis syndrome. Am J Med Genet 1988, 30:287-299.
5. Neri G., Gurrieri F., Zanni G., Lin A. Clinical and molecular aspects of the Simpson-Golabi-Behmel syndrome. Am J Med Genet 1998, 79:279-283.
6. James A., Culver K., Golabi M. Simpson-Golabi-Behmel syndrome. Gene Reviews 1993-2006 Dec 19, University of Washington, Seattle, Seattle (WA). R.A. Pagon, T.D. Bird, C.R. Dolan, K. Stephens (Eds.).
7. Terespolsky D., Farrell S.A., Siegel-Bartelt J., Weksberg R. Infantile lethal variant of Simpson-Golabi-Behmel syndrome associated with hydrops fetalis. Am J Med Genet 1995, 59:329-333.
8. Brzustowicz L.M., Farrell S., Khan M.B., Weksberg R. Mapping of a new SGBS locus to chromosome Xp22 in a family with a severe form of Simpson-Golabi-Behmel syndrome. Am J Hum Genet 1999, 65:779-783.
9. Budny B., Chen W., Omran H., Fliegauf M., Tzschach A., Wisniewska M., et al. A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome. Hum Genet 2006, 120:171-178.
10. Pilia G., Hughes-Benzie R.M., MacKenzie A., Baybayan P., Chen E.Y., Huber R., et al. Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome. Nat Genet 1996, 12:241-247.
11. Filmus J., Capurro M. The role of glypican-3 in the regulation of body size and cancer. Cell Cycle 2008, 7:2787-2790.
12. Ferrante M.I., Giorgio G., Feather S.A., Bulfone A., Wright V., Ghiani M., et al. Identification of the gene for oral-facial-digital type I syndrome. Am J Hum Genet 2001, 68:569-576.
13. Ferrante M.I., Zullo A., Barra A., Bimonte S., Messaddeq N., Studer M., et al. Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification. Nat Genet 2006, 38:112-117.
14. Ferrante M.I., Romio L., Castro S., Collins J.E., Goulding D.A., Stemple D.L., et al. Convergent extension movements and ciliary function are mediated by ofd1, a zebrafish orthologue of the human oral-facial-digital type 1 syndrome gene. Hum Molec Genet 2009, 18:289-303.
15. Rakkolainen A., Ala-Mello S., Kristo P., Orpana A., Jarvela I. Four novel mutations in the OFD1 (Cxorf5) gene in Finnish patients with oral-facial-digital syndrome 1. J Med Genet 2002, 39:292-296.
16. Coene K.L.M., Roepman R., Doherty D., Afroze B., Kroes H.Y., Letteboer S.J.F., et al. OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. Am J Hum Genet 2009, 85:465-481.
17. Li M., Shuman C., Fei Y.L., Cutiongco E., Bender H.A., Stevens C., et al. GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome. Am J Med Genet 2001, 102:161-168.
18. Veugelers M., Cat B.D., Muyldermans S.Y., Reekmans G., Delande N., Frints S., et al. Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene. Hum Mol Genet 2000, 9:1321-1328.
19. Lin A.E., Neri G., Hughes-Benzie R., Weksberg R. Cardiac anomalies in the Simpson-Golabi-Behmel syndrome. Am J Med Genet 1999, 83:378-381.
20. Veugelers M., Vermeesch J., Watanabe K., Yamaguchi Y., Marynen P., David G. GPC4, the gene for human K-glypican, flanks GPC3 on xq26: deletion of the GPC3-GPC4 gene cluster in one family with Simpson-Golabi-Behmel syndrome. Genomics 1998, 53:1-11.
21. Waterson J., Stockley T.L., Segal S., Golabi M. Novel duplication in glypican-4 as an apparent cause of Simpson-Golabi-Behmel syndrome. Am J Med Genet 2010, 152A:179-181.
22. Chen E., Johnson J.P., Cox V.A., Golabi M. Simpson-Golabi-Behmel syndrome: congenital diaphragmatic hernia and radiologic findings in two patients and follow-up of a previously reported case. Am J Med Genet 1993, 46:574-578.
23. Hughes-Benzie R.M., Tolmie J.L., McNay M., Patrick A. Simpson-Golabi-Behmel syndrome: disproportionate fetal overgrowth and elevated maternal serum alpha-fetoprotein. Prenat Diagn 1994, 14:313-318.
24. Yamashita H., Yasuhi I., Ishimaru T., Matsumoto T., Yamabe T. A case of nondiabetic macrosomia with Simpson-Golabi-Behmel syndrome: antenatal sonographic findings. Fetal Diagn Ther 1995, 10:134-138.
25. Li C.C., McDonald S.D. Increased nuchal translucency and other ultrasound findings in a case of Simpson-Golabi-Behmel syndrome. Fetal Diagn Ther 2009, 25:211-215.
26. Weichert J., Schröer A., Amari F., Siebert R., Caliebe A., Nagel I., et al. A 1Mb-sized microdeletion Xq26.2 encompassing the GPC3 gene in a fetus with Simpson-Golabi-Behmel syndrome: report, antenatal findings and review. Eur J Med Genet 2011, 54:343-347.
27. Hughes-Benzie R.M., Pilia G., Xuan J.Y., Hunter A.G.W., Chen E., Golabi M., et al. Simpson-Golabi-Behmel syndrome: genotype/phenotype analysis of 18 affected males from 7 unrelated families. Am J Med Genet 1996, 66:227-234.
28. Sotos J.F., Dodge P.R., Muirhead D.D., Crawford J.D., Talbot N.B. A syndrome of excessively rapid growth and acromegalic features and a nonprogressive neurologic disorder. N Engl J Med 1964, 271:109-116.
29. Cole T.R., Hughes H. Sotos syndrome: a study of the diagnostic criteria and natural history. J Med Genet 1994, 31:20-32.
30. Maroun C., Schmerler S., Hutcheon R.G. Child with Sotos phenotype and a 5:15 translocation. Am J Med Genet 1994, 50:291-293.
31. Imaizumi K., Kimura J., Matsuo M., Kurosawa K., Masuno M., Niikawa N., et al. Sotos syndrome associated with a de novo balanced reciprocal translocation t(5;8)(q35;q24.1). Am J Med Genet 2002, 107:58-60.
32. Kurotaki N., Imaizumi K., Harada N., Masuno M., Kondoh T., Nagai T., et al. Haploinsufficiency of NSD1 causes Sotos syndrome. Nat Genet 2002, 30:365-366.
33. Cohen M.M. Tumors and nontumors in Sotos syndrome. Am J Med Genet 1999, 84:173-175.
34. Baujat G., Cormier-Daire V. Sotos syndrome. Orphanet J Rare Dis 2007, 2:36.
35. Tatton-Brown K., Rahman N. Sotos syndrome. Eur J Hum Genet 2007, 15:264-271.
36. Tatton-Brown K., Cole T.R.P., Rahman N. Sotos syndrome. Gene Reviews 1993-2004 [updated December 10, 2009], University of Washington, Seattle, Seattle (WA). R.A. Pagon, T.D. Bird, C.R. Dolan, K. Stephens (Eds.).
37. Kurotaki N., Harada N., Yoshiura K., Sugano S., Niikawa N., Matsumoto N. Molecular characterization of NSD1, a human homologue of the mouse Nsd1 gene. Gene 2001, 279:197-204.
38. Niikawa N. Molecular basis of Sotos syndrome. Horm Res 2004, 62(Suppl. 3):60-65.
39. Wang X., Yeh S., Wu G., Hsu C.-L., Wang L., Chiang T., et al. Identification and characterization of a novel androgen receptor coregulator ARA267-α in prostate cancer cells. J Biol Chem 2001, 276:40417-40423.
40. Türkmen S., Gillessen-Kaesbach G., Meinecke P., Albrecht B., Neumann L.M., Hesse V., et al. Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes. Eur J Hum Genet 2003, 11:858-865.
41. Tatton-Brown K., Douglas J., Coleman K., Baujat G., Cole T.R.P., Das S., et al. Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. Am J Hum Genet 2005, 77:193-204.
42. Douglas J., Hanks S., Temple I.K., Davies S., Murray A., Upadhyaya M., et al. NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes. Am J Hum Genet 2003, 72:132-143.
43. Rio M., Clech L., Amiel J., Faivre L., Lyonnet S., Le Merrer M., et al. Spectrum of NSD1 mutations in Sotos and Weaver syndromes. J Med Genet 2003, 40:436-440.
44. Cecconi M., Forzano F., Milani D., Cavani S., Baldo C., Selicorni A., et al. Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth. Am J Med Genet 2005, 134A:247-253.
45. Faravelli F. NSD1 mutations in Sotos syndrome. Am J Med Genet C Semin Med Genet 2005, 137C:24-31.
46. Melchior L., Schwartz M., Duno M. dHPLC screening of the NSD1 gene identifies nine novel mutations-summary of the first 100 Sotos syndrome mutations. Ann Hum Genet 2005, 69:222-226.
47. Waggoner D.J., Raca G., Welch K., Dempsey M., Anderes E., Ostrovnaya I., et al. NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory. Genet Med 2005, 7:524-533.
48. Kurotaki N., Harada N., Shimokawa O., Miyake N., Kawame H., Uetake K., et al. Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion. Hum Mutat 2003, 22:378-387.
49. Miyake N., Kurotaki N., Sugawara H., Shimokawa O., Harada N., Kondoh T., et al. Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in sotos syndrome. Am J Hum Genet 2003, 72:1331-1337.
50. Tei S., Tsuneishi S., Matsuo M. The first Japanese familial Sotos syndrome with a novel mutation of the NSD1 gene. Kobe J Med Sci 2006, 52:1-8.
51. Saugier-Veber P., Bonnet C., Afenjar A., Drouin-Garraud V., Coubes C., Fehrenbach S., et al. Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome. Hum Mutat 2007, 28:1098-1107.
52. Höglund P., Kurotaki N., Kytola S., Miyake N., Somer M., Matsumoto N. Familial Sotos syndrome is caused by a novel 1 bp deletion of the NSD1 gene. J Med Genet 2003, 40:51-54.
53. Chen C.P., Lin S.P., Chang T.Y., Chiu N.C., Shih S.L., Lin C.J., et al. Perinatal imaging findings of inherited Sotos syndrome. Prenat Diagn 2002, 22:887-892.
54. Thomas A., Lemire E.G. Sotos syndrome: antenatal presentation. Am J Med Genet 2008, 146A:1312-1313.
55. Schou K.V., Kirchhoff M., Nygaard U., Jørgensen C., Sundberg K. Increased nuchal translucency with normal karyotype: a follow-up study of 100 cases supplemented with CGH and MLPA analyses. Ultrasound Obstet Gynecol 2009, 34:618-622.
56. Schaefer G.B., Bodensteiner J.B., Buehler B.A., Lin A., Cole T.R.P. Neuroimaging findings in Sotos syndrome. Am J Med Genet 1997, 68:462-465.
57. Gusmão Melo D., Pina-Neto J.M., Acosta A.X., Daniel J., de Castro V., Santos A.C. Neuroimaging and echocardiographic findings in Sotos syndrome. Am J Med Genet 2000, 90:432-434.
58. Beckwith J.B. Extreme cytomegaly of the adrenal fetal cortex, omphalocele, hyperplasia of kidneys and pancreas, and Leydig-cell hyperplasia: Another syndrome? 1963; Nov 11, [Western Society for Pediatric Research abstract], Los Angeles.
59. Wiedemann H.R. Complexe malformatif familial avec hernie ombilicale et macroglossia, un 'syndrome nouveau. J Genet Hum 1964, 13:223-232.
60. Waziri M., Patil S.R., Hanson J.W., Bartley J.A. Abnormality of chromosome 11 in patients with features of Beckwith-Wiedemann syndrome. J Pediatr 1983, 102:873-876.
61. Weksberg R., Shuman C., Smith A.C. Beckwith-Wiedemann syndrome. Am J Med Genet C Semin Med Genet 2005, 137C:12-23.
62. Weksberg R., Shuman C., Beckwith J.B. Beckwith-Wiedemann syndrome. Eur J Hum Genet 2010, 18:8-14.
63. Chen C.P. Syndromes and disorders associated with omphalocele, I: Beckwith-Wiedemann syndrome. Taiwan J Obstet Gynecol 2007, 46:96-102.
64. Choufani S., Shuman C., Weksberg R. Beckwith-Wiedemann syndrome. Am J Med Genet C Semin Med Genet 2010, 154C:343-354.
65. Shuman C., Beckwith J.B., Smith A.C., Weksberg R. Beckwith-Wiedemann syndrome. Gene Reviews 1993-2000 Mar 3 [updated 2010 Dec 14], University of Washington, Seattle, Seattle (WA). R.A. Pagon, T.D. Bird, C.R. Dolan, K. Stephens (Eds.).
66. Vora N., Bianchi D.W. Genetic considerations in the prenatal diagnosis of overgrowth syndromes. Prenat Diagn 2009, 29:923-929.
67. Reish O., Lerer I., Amiel A., Heyman E., Herman A., Dolfin T., et al. Wiedemann-Beckwith syndrome: further prenatal characterization of the condition. Am J Med Genet 2002, 107:209-213.
68. Williams D., Gauthier D.W., Maizels M. Prenatal diagnosis of Beckwith-Wiedemann syndrome. Prenat Diagn 2005, 25:879-884.
69. Halliday J., Oke K., Breheny S., Algar E. Beckwith-Wiedemann syndrome and IVF: a case-control study. Am J Hum Genet 2004, 75:526-528.
70. Gomes M.V., Huber J., Ferriani R.A., Amaral Neto A.M., Ramos E.S. Abnormal methylation at the KvDMR1 imprinting control region in clinically normal children conceived by assisted reproductive technologies. Mol Hum Reprod 2009, 15:471-477.
71. Lim D., Bowdin S.C., Tee L., Kirby G.A., Blair E., Fryer A., et al. Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies. Hum Reprod 2009, 24:741-747.