Genetics of Sotos syndrome

Current Opinion in Pediatrics

Volumn 15, Issue 6, 2003, Pages 598-606

  Visser, Remco ^a,b,c   Matsumoto, Naomichi ^a,d,e  

^a NAGASAKI UNIVERSITY GRADUATE SCHOOL OF BIOMEDICAL SCIENCES   (Japan)

^b 21st Century COE   (Japan)

^c LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^d JAPAN SCIENCE AND TECHNOLOGY AGENCY   (Japan)

^e NAGASAKI UNIVERSITY   (Japan)

Author keywords

Genotype phenotype correlation; Microdeletion; Mutation; NSD1; Sotos syndrome

Indexed keywords

CENTRAL NERVOUS SYSTEM; CHROMOSOME ABERRATION; CLINICAL FEATURE; CONGENITAL HEART DISEASE; CRANIOFACIAL DEVELOPMENT; DEVELOPMENTAL DISORDER; DIAGNOSTIC PROCEDURE; GENE MUTATION; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INHERITANCE; LABORATORY TEST; MULTIGENE FAMILY; MUSCULOSKELETAL DISEASE; NEOPLASM; NEWBORN PERIOD; PRIORITY JOURNAL; RECEPTOR BINDING; REVIEW; SOTOS SYNDROME; STRABISMUS; UROGENITAL TRACT MALFORMATION;

ABNORMALITIES, MULTIPLE; CARRIER PROTEINS; CHILD; CHROMOSOME ABERRATIONS; DEVELOPMENTAL DISABILITIES; GENES, DOMINANT; GENOTYPE; GROWTH DISORDERS; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; NUCLEAR PROTEINS; PHENOTYPE; SYNDROME;

EID: 0344393009     PISSN: 10408703     EISSN: None     Source Type: Journal    
DOI: 10.1097/00008480-200312000-00010     Document Type: Review

References (147)

1. Sotos JF, Dodge PR, Muirhead D, et al.: Cerebral gigantism in childhood. N Engl J Med 1964, 271:109-116.
2. Schlesinger B: Gigantism (acromegalic in type). Proc R Soc Med 1931, 24:1352-1353.
3. Kurotaki N, Imaizumi K, Harada N, et al.: Haploinsufficiency of NSD1 causes Sotos syndrome. Nat Genet 2002, 30:365-366. This report describes the finding of haploinsufficiency of the NSD1 gene as the major cause of SoS syndrome. The high number of microdeletions in Japanese patients have not been reported in other populations to date.
4. Imaizumi K, Kimura J, Matsuo M, 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.
5. Douglas J, Hanks S, Temple IK, 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. A considerable number of new NSD1 mutations is described in Caucasian patients with SoS. NSD1 mutations in Weaver syndrome are also reported.
6. Kamimura J, Endo Y, Kurotaki N, et al.: Online mutation report: Identification of 8 novel NSD1 mutations in Sotos syndrome. J Med Genet 2003, in press.
7. Rio M, Clech L, Amiel J, et al.: Spectrum of NSD1 mutations in Sotos and Weaver syndromes. J Med Genet 2003, 40:436-440. Interestingly, the authors suggest new criteria for SoS syndrome, based on the genotype-phenotype correlation found in their patients with SoS with aberrations.
8. Sotos JF, Cutler EA, Dodge P: Cerebral gigantism. Am J Dis Child 1977, 131:625-627.
9. Cole TRP, Hughes HE: Sotos syndrome: a study of the diagnostic criteria and natural history. J Med Genet 1994, 31:20-32.
10. Cohen MM Jr: Tumors and nontumors in Sotos syndrome. Am J Med Genet 1999, 84:173-175.
11. Nagai T, Matsumoto N, Kurotaki N, et al.: Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions. J Med Genet 2003, 40:285-289. This is the first genotype-phenotype correlation report suggesting phenotype difference between patients with SoS harboring an intragenic mutation or a microdeletion.
12. Hoglund P, Kurotaki N, Kytola S, et al.: Familial Sotos syndrome is caused by a novel 1 bp deletion of the NSD1 gene. J Med Genet 2003, 40:51-54. An interesting case report describing the only case to date of genotypically proved autosomal dominant trait in SoS.
13. Miyake N, Kurotaki N, Sugawara H, 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. Haplotype and genotype analyses are used to elucidate the parental origin of patients with SoS with a microdeletion and the possible mechanism. The microdeletions are in the majority of paternal origin.
14. Rayasam GV, Wendling O, Angrand PO, et al.: NSD1 is essential for early post-implantation development and has a catalytically active SET domain. EMBO J 2003, 22:3153-3163. NSD1-deficient mice were created by the authors. This report addresses possible functional roles of NSD1, reporting here its histone methyltransferase activity and its necessity for postimplantation development.
15. Wit JM, Beemer FA, Barth PG, et al.: Cerebral gigantism (Sotos syndrome). Compiled data of 22 cases. Analysis of clinical features, growth and plasma somatomedin. Eur J Pediatr 1985, 144:131-140.
16. Karlberg J, Wit JM: Linear growth in Sotos syndrome. Acta Paediatr Scand 1991, 80:956-957.
17. Agwu JC, Shaw NJ, Kirk J, et al.: Growth in Sotos syndrome. Arch Dis Child 1999, 80:339-342.
18. Allanson JE, Cole TRP: Sotos syndrome: evolution of facial phenotype subjective and objective assessment. Am J Med Genet 1996, 65:13-20.
19. Jaeken J, Van der Schueren-Lodeweckx M, Eeckels R: Cerebral gigantism syndrome: a report of four cases and review of the literature. Z Kinderheilk 1972, 112:332-346.
20. Opitz JM, Weaver DW, Reynolds JF Jr: The syndromes of Sotos and Weaver: reports and review. Am J Med Genet 1998, 79:294-304.
21. Sarimski K: Behavioural and emotional characteristics in children with Sotos syndrome and learning disabilities. Dev Med Child Neurol 2003, 45:172-178.
22. Cohen MM Jr: Mental deficiency, alterations in performance, and CNS abnormalities in overgrowth syndromes. Am J Med Genet 2003, 117C:49-56.
23. Varley CK, Crnic K: Emotional, behavioral, and cognitive status of children with cerebral gigantism. J Dev Behav Pediatr 1984, 5:132-134.
24. Rutter SC, Cole TRP: Psychological characteristics of Sotos syndrome. Dev Med Child Neurol 1991, 33:898-902.
25. Finegan JK, Cole TRP, Kingwell E, et al.: Language and behavior in children with Sotos syndrome. J Am Acad Child Adolesc Psychiatry 1994, 33:1307-1315.
26. Mauceri L, Sorge G, Baieli S, et al.: Aggressive behavior in patients with Sotos syndrome. Pediatr Neurol 2000, 22:64-67.
27. Mouridsen SE, Hansen MB: Neuropsychiatric aspects of Sotos syndrome. A review and two case illustrations. Eur Child Adolesc Psychiatry 2002, 11:43-48.
28. Milunsky A, Cowie VA, Donoghue EC: Cerebral gigantism in childhood. A report of two cases and a review of the literature. Pediatrics 1967, 40:395-402.
29. Hook EB, Reynolds JW: Cerebral gigantism: endocrinological and clinical observations of six patients including a congenital giant, concordant monozygotic twins, and a child who achieved adult gigantic size. J Pediatr 1967, 70:900-914.
30. Ott JE, Robinson A: Cerebral gigantism. Am J Dis Child 1969, 117:357-368.
31. Abraham JM, Snodgrass GJ: Sotos' syndrome of cerebral gigantism. Arch Dis Child 1969, 44:203-210.
32. Mace JW, Gotlin RW: Cerebral gigantism. Triad of findings helpful in diagnosis. Clin Pediatr (Phila) 1970, 9:662-667.
33. Schlack HG, Pfeiffer RA: Zerebraler Gigantismus im Kindesalter. Munch Med Wochenschr 1970, 112:26-31.
34. Lecornu M, Fonlupt J, Jezequel C, et al.: Gigantisme cerebral chez des jumeaux. Arch Fr Pediatr 1976, 33:277-285.
35. Zonana J, Sotos JF, Romshe CA, et al.: Dominant inheritance of cerebral gigantism. J Pediatr 1977, 91:251-256.
36. Krauel X, Berger R, Amiel-Tison C: Gigantisme cerebral: deux cas familiaux. J Genet Hum 1977, 25:205-214.
37. Wilson TA, Neufeld MR, Robinow M, et al.: Cerebral gigantism and thyrotoxicosis. J Pediatr 1980, 96:685-687.
38. Seyedabadi S, Bard DS, Zuna RE, et al.: Epidermoid carcinoma of the vagina in a patient with cerebral gigantism. J Ark Med Soc 1981, 78:123-127.
39. Livieri C, Gelmi CG, Lorini R, et al.: Retinal degeneration in Sotos' syndrome. Helv Paediatr Acta 1982, 37:93-94.
40. Gemelli M, Carlo Stella N, Barberio G, et al. Sindrome di Sotos in due fratelli. Conferma di una ereditarieta autosomica recessiva? Minerva Pediatr 1982, 34:983-986.
41. Maldonado V, Gaynon PS, Poznanski AK: Cerebral gigantism associated with Wilms' tumor. Am J Dis Child 1984, 138:486-488.
42. Adam KA, Salih Al Frayh AR, Sharma A, et al.: Cerebral gigantism with hydronephrosis: a case report. Clin Genet 1986, 29:178-180.
43. McNicholl B: Excessive head growth in early infancy: a feature of Sotos' syndrome. Ir Med J 1987, 80:261-262.
44. Harris AMP, Wood RE, Nortje CJ: Morphologic alterations of the temporomandibular joint in a patient with Sotos' syndrome: report of a case. Ann Dent 1988, 47:20-22.
45. Goldstein DJ, Ward RE, Moore E, et al.: Overgrowth, congenital hypotonia, nystagmus, strabismus, and mental retardation: variant of dominantly inherited Sotos sequence? Am J Med Genet 1988, 29:783-792.
46. De Santis L, Lattere M, Galletti A, et al.: Gigantismo cerebrale o sindrome di Sotos. Minerva Pediatr 1989, 41:215-219.
47. Maroun C, Schmerler S, Hutcheon RG: Child with Sotos phenotype and a 5: 15 translocation. Am J Med Genet 1994, 50:291-293.
48. Morrow JD, Whitman BY, Accardo PJ: Autistic disorder in Sotos syndrome: a case report. Eur J Pediatr 1990, 149:567-569.
49. Moretti-Ferreira D, Koiffmann CP, Wajntal A, et al.: Macrossomia, macrocrania e incoordenacao motora da infancia. Sindrome de Sotos (McKusick 11755). Estudo de 7 casos e revisao de aspectos clinicos de 198 casos publicados. Arq Neuropsiquiatr 1991, 49:164-171.
50. Suresh D: Posterior spinal fusion in Sotos' syndrome. Br J Anaesth 1991, 66:728-732.
51. Haeusler G, Guchev Z, Kohler I, et al.: Constitutional chromosome anomalies in patients with cerebral gigantism (Sotos syndrome). Klin Padiatr 1993, 205:351-353.
52. Sobel E: Cerebral gigantism (Sotos' syndrome). A rare cause of delayed walking and awkward gait. J Am Podiatr Med Assoc 1995, 85:497-499.
53. Haga N, Nakamura S, Shimode M, et al.: Scoliosis in cerebral gigantism, Sotos syndrome. A case report. Spine 1996, 21:1699-1702.
54. Al Rashed AA, Al-Jarallah AA, Salih MA, et al.: Sotos syndrome (cerebral gigantism): a clinical and radiological study of 14 cases from Saudi Arabia. Ann Trop Paediatr 1999, 19:197-203.
55. Robertson SP, Bankier A: Sotos syndrome and cutis laxa. J Med Genet 1999, 36:51-56.
56. Leonard NJ, Cole T, Bhargava R, et al.: Sacrococcygeal teratoma in two cases of Sotos syndrome. Am J Med Genet 2000, 95:182-184.
57. Faivre L, Viot G, Prieur M, et al.: Apparent Sotos syndrome (cerebral gigantism) in a child with trisomy 20p11.2-p12.1 mosaicism. Am J Med Genet 2000, 91:273-276.
58. Jin Y, Chen RL, Wang PJ, et al.: Sacrococcygeal germ cell tumor and spinal deformity in association with Sotos syndrome. Med Pediatr Oncol 2002, 38:133-134.
59. Sweeney E, Fryer A, Donnai D: Sotos syndrome: two cases with severe scoliosis. Clin Dysmorphol 2002, 11:121-124.
60. Cefle K, Yildiz A, Palanduz S, et al.: Chronic renal failure in a patient with Sotos syndrome due to autosomal dominant polycystic kidney disease. Int J Clin Pract 2002, 56:316-318.
61. Bejar RL, Smith GF, Park S, et al.: Cerebral gigantism: Concentrations of amino acids in plasma and muscle. J Pediatr 1970, 76:105-111.
62. Yeh H, Price RL, Lonsdale D: Cerebral gigantism (Sotos' syndrome) and cataracts. J Pediatr Ophthalmol Strabismus 1978, 15:231-232.
63. Goumy P, Malpuech G, Gannat M, et al.: Gigantisme cerebral familial. Une nouvelle observation a transmission autosomique dominante? Pediatrie 1979, 34:249-256.
64. Kaneko H, Tsukahara M, Tachibana H, et al.: Congenital heart defects in Sotos sequence. Am J Med Genet 1987, 26:569-576.
65. Di Marco G, Levantesi G, Parisi G, et al.: Cardiopatia congenita in paziente con sindrome di Sotos. G Ital Cardiol 1989, 19:453-455.
66. Yanagisawa H, Anzai T, Iijima T, et al.: Methicillin-cephem-resistant Staphylococcus aureus (MRSA) mediastinitis following open heart surgery. Kyobu Geka 1991, 44:1048-1051.
67. Noreau DR, Al-Ata J, Jutras L, et al.: Congenital heart defects in Sotos syndrome. Am J Med Genet 1998, 79:327-328.
68. Tsukahara M, Murakami K, Iino H, et al.: Congenital heart defects in Sotos syndrome. Am J Med Genet 1999, 84:172.
69. Suzuki N, Kyo K, Kano K: Sotos syndrome associated with West syndrome and a visual disorder. Pediatr Int 1999, 41:395-398.
70. Gusmao Melo D, Pina-Neto JM, Acosta AX: et al. Neuroimaging and echocardiographic findings in Sotos syndrome. Am J Med Genet 1999, 90:432-433.
71. Naritomi K: Cerebral gigantism. Ryoikibetsu Shokogun Shirizu 2001, 33:350-353.
72. Inokuchi M, Nomura J, Mtsumura Y, et al.: Sotos syndrome with enamel hypoplasia: a case report. J Clin Pediatr Dent 2001, 25:313-316.
73. Sharma PP, Vidaillet H, Dietz J: Patient with Sotos syndrome, Wolff-Parkinson-White pattern on electrocardiogram, and two right-sided accessory bypass tracts. Am J Med Genet 2003, 116A:372-375.
74. Moriyama M, Terashima K, Fukushima Y, et al.: Urogenital anomalies in patients with Sotos syndrome. Nippon Hinyokika Gakkai Zasshi 1984, 75:591-593.
75. Schrander-Stumpel CT, Fryns JP, Hamers GG: Sotos syndrome and de novo balanced autosomal translocation (t(3;6)(p21;p21)). Clin Genet 1990, 37:226-229.
76. Scarpa P, Faggioli R, Voghenzi A: Familial Sotos syndrome: longitudinal study of two additional cases. Genet Couns 1994, 5:155-159.
77. Hammadeh MY, Dutta SN, Cornaby AJ, et al.: Congenital urological anomalies in Sotos syndrome. Br J Urol 1995, 76:133-135.
78. Eijgenraam FJ, Donckerwolcke RA, Wit JM: Normal growth, despite renal failure, in a child with Sotos syndrome. Eur J Pediatr 1995, 154:167-168.
79. Cole TRP: Congenital urological anomalies in Sotos syndrome. Br J Urol 1996, 78:156.
80. Chen CP, Lin SP, Chang TY, et al.: Perinatal imaging findings of inherited Sotos syndrome. Prenat Diagn 2002, 22:887-892.
81. Ferrier PE, de Meuron G, Korol S, et al.: Cerebral gigantism (Sotos syndrome) with juvenile macular degeneration. Helv Paediatr Acta 1980, 35:97-102.
82. Barth PG, Vlasveld L, Valk J: Unilateral delayed opercularization in a case of Sotos' syndrome (cerebral gigantism). Neuroradiology 1980, 20:49-52.
83. Maino DM, Kofman J, Flynn MF, et al.: Ocular manifestations of Sotos syndrome. J Am Optom Assoc 1994, 65:339-346.
84. Koenekoop RK, Rosenbaum KN, Traboulsi EI: Ocular findings in a family with Sotos syndrome (cerebral gigantism). Am J Ophthalmol 1995, 119:657-658.
85. Buyukgebiz A, Ercal D, Bober E: Sotos syndrome with septo-optic dysplasia J Pediatr Endocrinol Metab 1996, 9:497-499.
86. Inoue K, Kato S, Numaga J, et al.: Optic disk pallor and retinal atrophy in Sotos syndrome (cerebral gigantism). Am J Ophthalmol 2000, 130:853-854.
87. Sotos JF, Romshe CA, Cutler EA: Cerebral gigantism and primary hypothyroidism: pleiotropy or incidental concurrence. Am J Med Genet 1978, 2:201-205.
88. Smith A, Farrar JR, Silink M, Judzewitsch R: Dominant Sotos's syndrome. Arch Dis Child 1980, 55:579.
89. Hulse JA: Two children with cerebral gigantism and congenital primary hypothyroidism. Dev Med Child Neurol 1981, 23:242-246.
90. Cohen MI: Cerebral gigantism in childhood. N Engl J Med 1964, 271:635.
91. Stephenson JN, Mellinger RC, Manson G: Cerebral gigantism. Pediatrics 1968, 41:130-138.
92. Korematsu S, Goto K, Ishihara T, et al.: Status epilepticus in two patients with Sotos syndrome. No To Hattatsu 1995, 27:29-34.
93. Dodge PR, Holmes SJ, Sotos JF: Cerebral gigantism. Dev Med Child Neurol 1983, 25:248-252.
94. Sugarman GI, Heuser ET, Reed WB: A case of cerebral gigantism and hepatocarcinoma. Am J Dis Child 1977, 131:631-633.
95. Raggert JJ 3rd, Heldt LV, Gareis FJ: Recurrent giant cell granuloma occurring in the mandible of a patient on high dose estrogen therapy for the treatment of Sotos' syndrome. J Oral Maxillofac Surg 1987, 45:1074-1076.
96. Nance MA, Neglia JP, Talwar D, et al.: Neuroblastoma in a patient with Sotos' syndrome. J Med Genet 1990, 27:130-132.
97. Cole TRP, Hughes HE, Jeffreys MJ, et al.: Small cell lung carcinoma in a patient with Sotos syndrome: are genes at 3p21 involved in both conditions? J Med Genet 1992, 29:338-341.
98. Hersh JH, Cole TRP, Bloom AS, et al.: Risk of malignancy in Sotos syndrome. J Pediatr 1992, 120:572-574.
99. Lippert MM: Malignancy in Sotos syndrome. J Pediatr 1993, 122:328.
100. Corsello G, Giuffre M, Carcione A, et al.: Lymphoproliferative disorders in Sotos syndrome: observation of two cases. Am J Med Genet 1996, 64:588-593.
101. Le Marec B, Pasquier L, Dugast C, et al.: Gastric carcinoma in Sotos syndrome (cerebral gigantism). Ann Genet 1999, 42:113-116.
102. Muraishi O, Kumamaru T, Nozaki Y, et al.: Testicular yolk sac tumour in a patient with Sotos syndrome. BJU Int 1999, 83:357-358.
103. Yule SM: Cancer in Sotos syndrome. Arch Dis Child 1999, 80:493.
104. Marci M, Ziino O, D'Angelo P, et al.: Fibroma of the left ventricle in a patient with Sotos syndrome. Echocardiography 2001, 18:171-173.
105. Chen CP, Yang YC, Lin SP, et al.: Bilateral calcified ovarian fibromas in a patient with Sotos syndrome. Fertil Steril 2002, 77:1285-1287.
106. Cole TRP, Allanson J: Reply to "Lymphoproliferative disorders in Sotos syndrome: observation in two cases". Am J Med Genet 1998, 75:226.
107. Cole TR, Hughes HE: Sotos syndrome. J Med Genet 1990, 27:571-576.
108. Schaefer GB, Bodensteiner JB, Buehler BA, et al.: The neuroimaging findings in Sotos syndrome. Am J Med Genet 1997, 68:462-465.
109. Aoki N, Oikawa A, Sakai T: Serial neuroimaging studies in Sotos syndrome (cerebral gigantism syndrome). Neurol Res 1998, 20:149-152.
110. Schaefer F: Response to the Letter to the Editor by Gusmao Melo et al.-"Neuroimaging and echocardiographic findings in Sotos syndrome". Am J Med Genet 2000, 90:434.
111. Butler MG, Meaney FJ, Kittur S, et al.: Metacarpophalangeal pattern profile analysis in Sotos syndrome. Am J Med Genet 1985, 20:625-629.
112. Dijkstra PF: Cerebral gigantism (Sotos' syndrome). Metacarpophalangeal pattern profiles. ROFO Fortschr Geb Rontgenstr Nuklearmed 1985, 143:183-185.
113. Butler MG, Meaney FJ: Metacarpophalangeal pattern profile analysis in Sotos syndrome: an update. Am J Med Genet 1986, 24:761.
114. Butler MG, Dijkstra PF, Meaney FJ, et al.: Metacarpophalangeal pattern profile analysis in Sotos syndrome: a follow-up report on 34 subjects. Am J Med Genet 1988, 29:143-147.
115. Butler MG, Fletcher M, Gale DD, et al.: Metacarpophalangeal pattern profile analysis in fragile X syndrome. Am J Med Genet 1988, 31:767-773.
116. Dijkstra PF, Cole TRP, Oorthuys JW, et al.: Metacarpophalangeal pattern profile analysis in Sotos and Marfan syndrome. Am J Med Genet 1994, 51:55-60.
117. Takahashi Y, Imaizumi K, Takada F, Kuroki Y: Metacarpophalangeal pattern profile analysis in 14 Japanese children with Sotos syndrome. Jpn J Hum Genet 1994, 39:187-191.
118. Cohen MM Jr: Overgrowth syndromes: an update. Adv Pediatr 1999, 46:441-491.
119. Malgeri U, Baldini L, Perfetti V, et al.: Detection of t(4;14)(p16.3;q32) chromosomal translocation in multiple myeloma by reverse transcription- polymerase chain reaction analysis of IGH-MMSET fusion transcripts. Cancer Res 2000, 60:4058-4061.
120. Jaju RJ, Fidler C, Haas OA, et al.: A novel gene, NSD1, is fused to NUP98 in the t(5;11)(q35;p15.5) in de novo childhood acute myeloid leukemia. Blood 2001, 98:1264-1267.
121. Brown J, Jawad M, Twigg SRF, et al.: A cryptic t(5;11)(q35;p15.5) in 2 children with acute myeloid leukemia with apparently normal karyotypes, identified by a multiplex fluorescence in situ hybridization telomere assay. Blood 2002, 99:2526-2531.
122. Rosati R, La Starza R, Veronese A, et al.: NUP98 is fused to the NSD3 gene in acute myeloid leukemia associated with t(8;11)(p11.2;p15). Blood 2002, 99:3857-3860.
123. Panarello C, Rosanda C, Morerio C: Cryptic translocation t(5;11)(q35;p15.5) with involvement of the NSD1 and NUP98 genes without 5q deletion in childhood acute myeloid leukemia. Genes Chromosomes Cancer 2002, 35:277-281.
124. Angrand PO, Apiou F, Stewart AF, et al.: NSD3, a new SET domain-containing gene, maps to 8p12 and is amplified in human breast cancer cell lines. Genomics 2001, 74:79-88.
125. Schneider R, Bannister AJ, Kouzarides T: Unsafe SETs: histone lysine methyltransferases and cancer. Trends Biochem Sci 2002, 27:396-402.
126. Sakano T, Yoshimitsu T, Tanabe A, et al.: Cerebral gigantism: a report of two cases with elevated serum somatomedin A levels and a review of the Japanese literature. Hiroshima J Med Sci 1977, 26:311-319.
127. Baerlocher K, Raggi M: Zur Frage von Aminosaurenveranderungen im Plasma beim zerebralen Gigantismus (Sotos-syndrom). Padiatr Padol 1981, 16:121-132.
128. Ambler GR, Cowell CT, Quigley CA, et al.: Growth hormone hypersecretion in Sotos' syndrome? Acta Paediatr 1993, 82:214-216.
129. Stratton RF, Tedrowe NA, Tolworthy JA, et al.: Deletion 5q35.3. Am J Med Genet 1994, 51:150-152.
130. Maruri F: Brief clinical report on a deletion 5q35.3. Am J Med Genet 1995, 56:327.
131. Tamaki K, Horie K, Go T, et al.: Sotos syndrome with a balanced reciprocal translocation t(2;12)(q33.3;q15). Ann Genet 1989, 32:244-246.
132. Wajntal A, Koiffmann CP: Chromosome aberrations in Sotos syndrome. Clin Genet 1991, 40:472.
133. Kok K, Mosselaar A, Faber H, et al.: Breakpoint mapping by FISH in a Sotos patient with a constitutional translocation t(3;6). J Med Genet 1999, 36:346-347.
134. Huang N, vom Baur E, Garnier JM, et al.: Two distinct nuclear receptor interaction domains in NSD1, a novel SET protein that exhibits characteristics of both corepressors and coactivators. EMBO J 1998, 17:3398-3412.
135. Stec I, Wright TJ, van Ommen GJ, et al.: WHSC1, a 90 kb SET domain-containing gene, expressed in early development and homologous to a Drosophila dysmorphy gene maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in t(4;14) multiple myeloma. Hum Mol Genet 1998, 7:1071-1082.
136. Kurotaki N, Harada N, Yoshiura K, et al.: Molecular characterization of NSD1, a human homologue of the mouse Nsd1 gene. Gene 2001, 279:197-204.
137. Hansen FJ, Friis B: Familial occurrence of cerebral gigantism, Sotos' syndrome. Acta Paediatr Scand 1976, 65:387-389.
138. Smith A, Farrar JR, Silink M, Judzewitsch R: Investigations in dominant Sotos syndrome. Ann Genet 1981, 24:226-228.
139. Winship IM: Sotos syndrome-autosomal dominant inheritance substantiated. Clin Genet 1985, 28:243-246.
140. Bale AE, Drum MA, Parry DM, et al.: Familial Sotos syndrome (cerebral gigantism): craniofacial and psychological characteristics. Am J Med Genet 1985, 20:613-624.
141. Townes PL, Scheiner AP: Cerebral gigantism (Sotos' syndrome): evidence for recessive inheritance. Pediatr Res 1973, 7:349.
142. Boman H, Nilsson D: Sotos syndrome in two brothers. Clin Genet 1980, 18:421-427.
143. Zafra de la Rosa G, Canun-Serrano S, Avila Rosas H: Sindrome de Sotos en gemelas dicigotas discordantes. Bol Med Hosp Infant Mex 1984, 41:551-555.
144. Brown WT, Wisniewski KE, Sudhalter V, et al.: Identical twins discordant for Sotos syndrome. Am J Med Genet 1998, 79:329-333.
145. Wirth B, Schmidt T, Hahnen E, et al.: De novo rearrangemems found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling. Am J Hum Genet 1997, 61:1102-1111.
146. Inoue K, Lupski JR: Molecular mechanisms for genomic disorders. Annu Rev Genomics Hum Genet 2002, 3:199-242.
147. Stankiewicz P, Lupski JR: Genome architecture, rearrangements and genomic disorders. Trends Genet 2002, 18:74-82.