Three novel mutations in greek Sotos patients with rare clinical manifestations

Hormone Research

Volumn 71, Issue 1, 2009, Pages 45-51

  Leventopoulos, George ^a   Kitsiou Tzeli, Sophia ^a   Psoni, Stavroula ^a   Mavrou, Ariadni ^a   Kanavakis, Emmanuel ^a   Willems, Patrick ^b   Fryssira, Helen ^a  

^a UNIVERSITY OF ATHENS MEDICAL SCHOOL   (Greece)

^b Genetic Diagnostics Belgium   (Belgium)

Author keywords

Dysplastic renal cysts; NSD1 mutations; Psychosis; Sotos syndrome

Indexed keywords

HALOPERIDOL; RISPERIDONE;

ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; EXON; FEMALE; FRAMESHIFT MUTATION; GENE; GREECE; HUMAN; MALE; MISSENSE MUTATION; MULTICYSTIC DYSPLASTIC KIDNEY; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NSD1 GENE; PHENOTYPE; PRIORITY JOURNAL; PSYCHOSIS; SOTOS SYNDROME; STOP CODON;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; FACIES; GREECE; HUMANS; INFANT; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MUTATION; NUCLEAR PROTEINS; PHENOTYPE;

EID: 56749149824     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: 10.1159/000173741     Document Type: Article

References (39)

1. Sotos JF, Dodge PR, Muirhead D, Crawfort JD, Talbot NB: Cerebral gigantism in childhood: a syndrome of excessively rapid growth with acromegalic features and a non-progressive neurologic disorder. N Engl J Med 1964;271:109-116.
2. Hook EB, Reynolds JW: Cerebral gigantism: Endocrinological and clinical observations of six patients including congenital giant, concordant monozygotic twins, and a child who achieved adult gigantic size. J Pediatr 1967;70:900-914.
3. Cole TRP, Hughes HE: Sotos syndrome. J Med Genet 1990;27:571-576.
4. Höglund P, Kurotaki N, KytöläS, 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;49:51-54.
5. Sotos JF: Overgrowth. Clin Pediatr 1997;36:89-103.
6. Cole TRP, Hughes HE: Sotos syndrome: A study of the diagnostic criteria and natural history. J Med Genet 1994;31:20-32.
7. Tatton-Brown K, Rahman N: Sotos syndrome. Eur J Hum Genet 2007;15:264-271.
8. van Haelst MM, Hoogeboom JJ, Baujat G, Brüggenwirth HT, Van de Laar I, Coleman K, Rahman N, Niermeijer MF, Drop SL, Scambler PJ: Familial gigantism caused by an NSD1 mutation. Am J Med Genet 2005;139:40-44.
9. Tatton-Brown K, Rahman N: Clinical features of NSD1-positive Sotos syndrome. Clin Dysmorphol 2004;13:199-204.
10. Hersh JH, Cole TR, Bloom AS, Bertolone SJ, Hughes HE: Risk of malignancy in Sotos syndrome. J Pediatr 1992;120:572-574.
11. Jaju RJ, Fidler C, Haas OA, Strickson AJ, Watkins F, Clark K, Cross NC, Cheng JF, Aplan PD, Kearney L, Boultwood J, Wainscoat JS: 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.
12. Imaizumi K, Kimura J, Matsuo M, Kurosawa K, Masuno M, Niikawa N, Kuroki Y: Sotos syndrome associated with a de novo balanced reciprocal translocation t(5;8)(q35; q24.1). Am J Med Genet 2002;107:58-60.
13. Kurotaki N, Imaizumi K, Harada N, Masuno M, Kondoh T, Nagai T, Ohashi H, Naritomi K, Tsukahara M, Makita Y, Sugimoto T, Sonoda T, Hasegawa T, Chinen Y, Tomita H-A, Kinoshita A, Mizuguchi T, Yoshiura K-I, Ohta T, Kishino T, Fukushima Y, Niikawa N, Matsumoto N: Happloinsufficiency of NSD1 causes Sotos syndrome. Nat Genet 2002;30:365-366.
14. Rayasam GV, Wendling O, Angrand PO, Mark M, Niederreither K, Song L, Lerouge T, Hager GL, Chambon P, Losson R: NSD1 is essential for early post-implantation development and has a catalytically active SET domain. EMBO J 2003;22:3153-3163.
15. Aasland R, Stewart AF: The chromo shadow domain, a second chromo domain in heterochromatin-binding protein 1, HP1. Nucleic Acids Res 1995;23:3168-3173.
16. Stec I, Nagl SB, van Ommen GJ, den Dunnen JT: The PWWP domain: a potential protein-protein interaction domain in nuclear proteins influencing differentiation? FEBS Lett 2000;473:1-5.
17. Kurotaki N, Harada N, Yoshiura K, Sugano S, Nikawa N, Matsumoto N: Molecular characterisation of NSD1, a human homologue of the mouse nsd1 gene. Gene 2001;279:197-204.
18. Kurotaki N, Harada N, Shimokawa O, Miyake N, Kawame H, Uetake K, Makita Y, Kondoh T, Ogata T, Hasegawa T, Nagai T, Ozaki T, Touyama M, Shenhav R, Ohashi H, Medne L, Shiihara T, Ohtsu S, Kato Z, Okamoto N, Nishimoto J, Lev D, Miyoshi Y, Ishikiriyama S, Sonoda T, Sakazume S, Fukushima Y, Kurosawa K, Cheng JF, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N: Fifty microdeletions among 112 cases of Sotos syndrome: Low copy repeats possibly mediate the common deletion. Hum Mut 2003;22:378-387.
19. Waggoner D, Raca G, Welch K, Dempsey M, Anderes E, Ostrovnaya I, Alkhateeb A, Kamimura J, Matsumoto N, Schaeffer GB, Martin CL, Das S: NSD1 analysis for Sotos syndrome: Insights and perspectives from the clinical laboratory. Gen Med 2005;7:524-533.
20. Cecconi M, Forzano F, Milani D, Cavani S, Baldo C, Selicorni A, Pantaleoni C, Silengo M, Ferrero GB, Scarano G, Della Monica M, Fischetto R, Grammatico P, Majore S, Zampino G, Memo L, Lucci Cordisco E, Neri G, Pierluigi M, Dagna Bricarelli F, Grasso M, Faravelli F: Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth. Am J Med Genet 2005;134A:247-253.
21. Douglas J, Hanks S, Temple IK, Davies S, Murray A, Upadhyaya M, Tomkins S, Hughes HE, TRP Cole, Rahman N: NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in overgrowth phenotypes. Am J Hum Genet 2003;72:132-143.
22. Rio M, Clech L, Amiel J, Faivre L, Lyonnet S, Le Merrer M, Odent S, Lacombe D, Edery P, Brauner R, Raoul O, Gosset P, Prieur M, Vekemans M, Munnich A, Colleaux L, Cormier-Daire V: Spectrum of NSD mutations in Sotos and Weaver syndromes. J Med Genet 2003;40:436-440.
23. Tatton-Brown K, Douglas J, Coleman K, Baujat G, Cole TRP, Das S, Horn D, Hughes HE, Temple K, Faravelli F, Waggoner D, Türkmen S, Cormier-Daire V, Irrthum A, Rahman N: Genotype-phenotype associations in Sotos syndrome: an analysis in 266 individuals with NSD1 aberrations. Am J Hum Genet 2005;77:193-204.
24. Türkmen S, Gillesen-Kaebach G, Meinecke P, Albrecht B, Neumann LM, Hesse V, Palanduz S, Balg S, Majewski F, Fuchs S, Zschieschgang P, Greiwe M, Mennicke K, Kreuz FR, Dehmel HJ, Rodeck B, Kunze J, Tinschert S, Mundlos S, Horn D: 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.
25. Kamimura J, Endo Y, Kurotaki N, Kinoshita A, Miyake N, Shimokawa O, Harada N, Visser R, Ohashi H, Miyakawa K, Gerritsen J, Innes AM, Lagace L, Frydman M, Okamoto N, Puttinger R, Raskin S, Resic B, Culic V, Yoshiura K, Ohta T, Kishino T, Ishikawa M, Niikawa N, Matsumoto N: Identification of eight novel NSD1 mutations in Sotos syndrome. J Med Genet 2003;40:126.
26. Nagai T, Matsumoto N, Kurotaki N, Harada N, Niikawa N, Ogata T, Imaizumi K, Kurosawa K, Kondoh T, Ohashi H, Tsukahara M, Makita Y, Sugimoto T, Sonoda T, Yokohama T, Uetake K, Sakazume S, Fukushima Y, Naritomi K: Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions. J Med Genet 2003;40:285-289.
27. Saugier-Veber P, Bonnet C, Afenjar A, Drouin-Garraud V, Coubes C, Fehrenbach S, Holder-Espinasse M, Roume J, Malan V, Portnoi MF, Jeanne N, Baumann C, Heron D, David A, Gerard M, Bonneau D, Lacombe D, Cormier-Daire V, Billette de Villemeur T, Frebourg T, Burglen L: Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome. Hum Mutat 2007;28:1098-1107.
28. de Boer L, Kant SG, Karperien M, van Beers L, Tjon J, Vink GR, van Tol D, Dauwerse H, le Cessie S, Beemer FA, van der Burgt I, Hamel BC, Hennekam RC, Kuhnle U, Mathijssen IB, Veenstra-Knol HE, Stumpel CT, Breuning MH, Wit JM: Genotype-phenotype correlation in patients suspected of having Sotos syndrome. Horm Res 2004;62:197-207.
29. 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.
30. Visser R, Matsumoto N: Genetics of Sotos syndrome. Curr Opin Pediatr 2003;15:598-606.
31. Melo DG, Acosta AX, Almeida Salles MA, Pina-Neto JM, Castro JDV, Santos AC: Sotos syndrome (cerebral gigantism). Analysis of 8 cases. Arq Neuropsiquiatr 2002;60:234-238.
32. Schaefer GB, Bodensteiner JB, Buehler BA, Lin A, Cole TRP: The neuroimaging findings in Sotos syndrome. Am J Med Genet 1997;68:462-465.
33. Noreau DR, Al-Ata J, Jutras L, Teebi AS: Congenital heart defects in Sotos syndrome. Am J Med Genet 1998;79:327-328.
34. Nora J, Berg K, Nora AH: Cardiovascular Diseases: Genetics, Epidemiology and Prevention. Oxford University Press, New York, 1991, p 55.
35. Kanenko H, Tsukahara M, Tachibana H, Kurashige H, Kuwano A, Kajii T: Congenital heart defects in Sotos sequence. Am J Med Genet 1987;26:569-576.
36. Lapunzina P: Risk of tumorigenesis in overgrowth syndromes: a comprehensive review. Am J Med Genet 2005;137C:53-71.
37. Mouridsen SE, Hansen MB: Neuropsychiatric aspects of Sotos syndrome. A review and two case illustrations. Eur Child Adolesc Psychiatry 2002;11:43-48.
38. Compton MT, Celentana M, Price B, Furman AC: A case of Sotos syndrome (cerebral gigantism) and psychosis. Psychopathology 2004;37:190-193.
39. Baujat G, Rio M, Rossignol S, Sanlaville D, Lyonnet S, Le Merrer M, Munnich A, Gicquel C, Cormier-Daire V, Colleaux L: Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome. Am J Hum Genet 2004;74:715-720.