Sotos syndrome and haploinsufficiency of NSD 1: Clinical features of intragenic mutations and submicroscopic deletions

Journal of Medical Genetics

Volumn 40, Issue 4, 2003, Pages 285-289

  Nagai, T ^a   Matsumoto, N ^b   Kurotaki, N ^b   Harada, N ^b   Niikawa, N ^b   Ogata, T ^c   Imaizumi, K ^d   Kurosawa, K ^d   Kondoh, T ^b   Ohashi, H ^e   Tsukahara, M ^f   Makita, Y ^g   Sugimoto, T ^h   Sonoda, T ⁱ   Yokoyama, T ^j   Uetake, K ^k   Sakazume, S ^l   Fukushima, Y ^l   Naritomi, K ^m  

^a DOKKYO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b NAGASAKI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^d KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^e SAITAMA CHILDREN'S MEDICAL CENTER   (Japan)

^f YAMAGUCHI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^g ASAHIKAWA MEDICAL COLLEGE   (Japan)

^h KANSAI MEDICAL UNIVERSITY   (Japan)

ⁱ UNIVERSITY OF MIYAZAKI   (Japan)

^j Tokyo Metropol Kiyose Children's H ^*  (Japan)

^k Obihiro Kousei Hospital   (Japan)

^l SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^m UNIVERSITY OF THE RYUKYUS SCHOOL OF MEDICINE   (Japan)

more..

Author keywords

[No Author keywords available]

Indexed keywords

MUTANT PROTEIN; CARRIER PROTEIN; DNA; NSD1 PROTEIN, HUMAN; NUCLEAR PROTEIN; SIGNAL PEPTIDE;

ADOLESCENT; ADULT; ARTICLE; BRAIN MALFORMATION; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL HEART DISEASE; FEMALE; GENE; GENE DELETION; GENE DOSAGE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; GROWTH DISORDER; HAPLOTYPE; HUMAN; HYPERREFLEXIA; JAPAN; MALE; MATURATION; MENTAL DEFICIENCY; MUSCLE HYPOTONIA; NSD 1 GENE; POINT MUTATION; PRIORITY JOURNAL; SOTOS SYNDROME; URINARY TRACT MALFORMATION; CHEMISTRY; GENETICS; LETTER; MULTIPLE MALFORMATION SYNDROME; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PRESCHOOL CHILD; SYNDROME;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; GENE DELETION; GROWTH DISORDERS; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MENTAL RETARDATION; MUTATION; NUCLEAR PROTEINS; SYNDROME;

EID: 0037374850     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.40.4.285     Document Type: Article

References (23)

1. Cole TRP, Hughes HE. Sotos syndrome. J Med Genet 1990;27:571-76.
2. Cole TR, Hughes HE. Sotos syndrome: a study of the diagnostic criteria and natural history. J Med Genet 1994;31:20-32.
3. Kaneko H, Tsukahara M, Tachibana H, Kurashige H, Kuwano A, Kajii T. Congenital heart defects in Sotos sequence. Am J Med Genet 1987;26:569-76.
4. Hammadeh MY, Dutta SN, Cornaby AJ, Morgan RJ. Congenital urological anomalies in Sotos syndrome. Br J Urol 1995;76:133-5.
5. Schaefer GB, Bodensteiner JB, Buehler BA, Lin A, Cole TRP. The neuroimaging findings in Sotos syndrome. Am J Med Genet 1997;68:462-5.
6. Noreau DR, Al-Ata J, Jutras L, Teebi AS. Congenital heart defects in Sotos syndrome. Am J Med Genet 1998;79:327-8.
7. Hersh JH, Cole TR, Bloom AS, Bertolone SJ, Hughes HE. Risk of malignancy in Sotos syndrome. J Pediatr 1992;120:572-4.
8. Cohen Jr MM. Tumors and nontumors in Sotos syndrome. Am J Med Genet 1999;84:173-5.
9. Winship IM. Sotos syndrome: autosomal dominant inheritance substantiated. Clin Genet 1995;28:243-6.
10. 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 Ha HA, Kinoshita A, Mizuguchi T, Yoshiura Ki K, Ohta T, Kishino T, Fukushima Y, Niikawa N, Matsumoto N. Haploinsufficiency of NSD 1 causes Sotos syndrome. Nat Genet 2002;30:365-6.
11. Kurotaki N, Harada N, Yoshiura K, Sugano S, Niikawa N, Matsumoto N. Molecular characterization of NSD 1, a human homologue of the mouse Nsd 1 gene. Gene 2001;279:197-204.
12. Huang N, vom Baur E, Garnier JM, Lerouge T, Vonesch JL, Lutz Y, Chambon P, Losson R. Two distinct nuclear receptor interaction domains in NSD 1, a novel SET protein that exhibits characteristics of both corepressors and coactivators. EMBO J 1998;17:3398-412.
13. Suwa S, Tachibana K, Maesaka H, Tanaka T, Yokoya S. Longitudinal standards for height and height velocity for Japanese children from birth to maturity. Clin Pediatr Endocrinol 1992;1:5-13.
14. Murata M, Matsuo N, Tanaka T, Ohtsuki F, Ashizawa K, Tatara Y, Anzo M, Satoh M, Matsuoka H, Asami T, Tsukakoshi K. Radiographic atlas of skeletal development for the Japanese. Tokyo: Kanehora Press, 1993 (in Japanese).
15. Rahman N, Douglas J, Hanks S, Temple IK, Hughes HE, Cole T, and The Childhood Overgrowth Consortium. Intragenic mutations of NSD 1 are a major cause of Sotos syndrome and Weaver syndrome but do not account for other overgrowth phenotypes. Am J Hum Genet Suppl 2002;71:169.
16. Fisher E, Scambler P. Human haploinsufficiency - one for sorrow, two for joy. Nat Genet 1994;7:5-7.
17. Rutter SC, Cole TR. Psychological characteristics of Sotos syndrome. Dev Med Child Neurol 1991;33:898-902.
18. Finegan JK, Cole TR, Kingwell E, Smith ML, Smith M, Sitarenios G. Language and behavior in children with Sotos syndrome. J Am Acad Child Adolesc Psychiatry 1994;33:1307-15.
19. Gorlin RJ, Cohen MM, Levin LS. Overgrowth syndromes and postnatal onset obesity syndromes. In: Syndromes of the head and neck. 3rd ed. New York: Oxford University Press, 1990:323-52.
20. Neri G, Gurrieri F, Zanni G, Lin A. Clinical and molecular aspects of the Simpson-Golabi-Behmel syndrome. Am J Med Genet 1998;79:279-83.
21. Wiedemann HR. Tumours and hemihypertrophy associated with Wiedemann-Beckwith syndrome. Eur J Pediatr 1983;141:129.
22. White GRM, Kelsey AM, Varley JM, Birch JM. Somatic glypican 3 (GPC3) mutations in Wilms' tumour. Br J Cancer 2002;86:1920-2.
23. Weksberg R, Shen DR, Fei YL, Song QL, Squire J. Disruption of insulin-like growth factor 2 imprinting in Beckwith-Wiedemann syndrome. Nat Genet 1993;5:143-50.