NSD1 mutations are the major cause of sotos syndrome and occur in some cases of weaver syndrome but are rare in other overgrowth phenotypes

American Journal of Human Genetics

Volumn 72, Issue 1, 2003, Pages 132-143

  Douglas, Jenny ^a   Hanks, Sandra ^a   Temple, I Karen ^b   Davies, Sally ^c   Murray, Alexandra ^c   Upadhyaya, Meena ^c   Tomkins, Susan ^d   Hughes, Helen E ^c   Cole, Trevor R P ^e   Rahman, Nazneen ^a  

^a INSTITUTE OF CANCER RESEARCH   (United Kingdom)

^b UNIVERSITY HOSPITAL SOUTHAMPTON NHS FOUNDATION TRUST   (United Kingdom)

^c UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

^d ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^e BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID DERIVATIVE; CELL NUCLEUS RECEPTOR;

ARTICLE; CHILDHOOD DISEASE; CONTROLLED STUDY; CORRELATION ANALYSIS; EXON; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE FUNCTION; GENE MUTATION; GENE NSD1; GENETIC ANALYSIS; GROWTH DISORDER; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUTATION; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; RNA SPLICING; SOTOS SYNDROME; WEAVER SYNDROME;

EID: 0037217478     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/345647     Document Type: Article

References (31)

1. Aasland R, Gibson TJ, Stewart AF (1995) The PHD finger: Implications for chromatin-mediated transcriptional regulation. Trends Biochem Sci 20:56-59
2. Angrand PO, Apiou F, Stewart AF, Dutrillaux B, Losson R, Chambon P (2001) NSD3, a new SET domain-containing gene, maps to 8p12 and is amplified in human breast cancer cell lines. Genomics 74:79-88
3. Charbonnier F, Olschwang S, Wang Q, Boisson C, Martin C, Buisine M-P, Puisieux A, Frebourg T (2002) MSH2 in contrast to MLH1 and MSH6 is frequently inactivated by exonic and promoter rearrangements in hereditary nonpolyposis colorectal cancer. Cancer Res 62:848-853
4. Chesi M, Nardini E, Lim RS, Smith KD, Kuehl WM, Bergsagel PL (1998) The t(4;14) translocation in myeloma dysregulates both FGFR3 and a novel gene, MMSET, resulting in IgH/MMSET hybrid transcripts. Blood 92:3025-3034
5. Cole T (1998) Growing interest in overgrowth. Arch Dis Child 78:200-204
6. Cole TRP, Dennis NR, Hughes HE (1992) Weaver syndrome. J Med Genet 29:332-337
7. ._ (1995) Weaver syndrome: Seven new cases and a review of the literature. In: Donnai D, Winter RM (eds) Congenital Malformation Syndromes. Chapman & Hall, London, pp 267-280
8. Cole TRP, Hughes HE (1990) Sotos syndrome. J Med Genet 27:571-576
9. ._ (1991) Autosomal dominant macrocephaly: Benign familial macrocephaly or a new syndrome? Am J Med Genet 41:115-124
10. ._ (1994) Sotos syndrome: A study of the diagnostic criteria and natural history. J Med Genet 31:20-32
11. ._ (1995) Sotos syndrome. In: Donnai D, Winter RM (eds) Congenital Malformation Syndromes. Chapman & Hall, London, pp 254-266
12. Cooper DN, Krawczak M (1989) Cytosine methylation and the fate of CpG dinucleotides in vertebrate genomes. Hum Genet 83:181-188
13. Ganguly A, Rock MJ, Prockop DJ (1993) Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: Evidence for solvent-induced bends in DNA heteroduplexes. Proc Natl Acad Sci USA 90:10325-10329
14. Hersh JH, Cole TRP, Bloom AS, Bertolone SJ, Hughes HE (1992) Risk of malignancy in Sotos syndrome. J Pediatr 120:572-574
15. Huang N, vom Baur E, Garnier J-M, Lerouge T, Vonesch J-L, Lutz Y, Chambon P, Losson R (1998) Two distinct nuclear receptor interaction domains in NSD1, a novel SET protein that exhibits characteristics of both corepressors and coactivators. EMBO J 17:3398-3412
16. Imaizumi K, Kimura J, Matsuo M, Kurosawa K, Masuno M, Niikawa N, Kuroki Y (2002) Sotos syndrome associated with a de novo balanced reciprocal translocation t(5;8)(q35;q24.1). Am J Med Genet 107:58-60
17. Jenuwein T (2001) Re-SET-ting heterochromatin by histone methyltransferases. Trends Cell Biol 11:266-273
18. Kaneko H, Tsukahara M, Tachibana H, Kurashige H, Kuwano A, Kajii T (1987) Congenital heart defects in Sotos sequence. Am J Med Genet 26:569-576
19. Kurotaki N, Harada N, Yosiura K, Sugano S, Niikawa N, Matsumoto N (2001) Molecular characterisation of NSD1, a human homologue of the mouse Nsd1 gene. Gene 279: 197-204
20. 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, Kinoshita A, Mizuguchi T, Yoshiura K, Ohta T, Tatsuya K, Fukushima Y, Niikawa N, Matsumoto N (2002) Haploin-sufficiency of NSD1 causes Sotos syndrome. Nat Genet 30:365-366
21. Lopez Correa C, Brems H, Lazaro C, Marynen P, Legius E (2000) Unequal meiotic crossover: A frequent cause of NF1 microdeletions. Am J Hum Genet 66:1969-1974
22. Noreau DR, Al-Ata J, Jutras L, Teebi AS (1998) Congenital heart defects in Sotos syndrome. Am J Med Genet 79:327-328
23. Opitz JM, Weaver DW, Reynolds JF (1998) The syndromes of Sotos and Weaver: Reports and review. Am J Med Genet 79:294-304
24. Proud VK, Braddock SR, Cook L, Weaver DD (1998) Weaver syndrome: Autosomal dominant inheritance of the disorder. Am J Med Genet 79:305-310
25. Rea S, Eisenhaber F, O'Carroll D, Strahl BD, Sun ZW, Schmid M, Opravil S, Mechtler K, Ponting CP, Allis CD, Jenuwein T (2000) Regulation of chromatin structure by site-specific histone H3 methytransferases. Nature 406:593-599
26. Sotos JF, Dodge PR, Muirhead D, Crawford JD, Talbot NB (1964) Cerebral gigantism in childhood. N Engl J Med 271:109-116
27. Stankiewicz P, Lupski JR (2002) Genome architecture, rearrangements and genomic disorders. Trends Genet 18:74-82
28. Stec I, Nagl SB, van Ommen GJB, den Dunnen JT (2000) The PWWP domain: A potential protein-protein interaction domain in nuclear proteins influencing differentiation? FEBS Lett 473:1-5
29. Stec I, Wright TJ, van Ommen G-J, de Boer PAJ, van Haeringen A, Moorman AFM, Altherr MR, den Dunnen JT (1998) WHSC1, a 90kb 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 7:1071-1082
30. Sweeney E, Fryer A, Donnai D (2002) Sotos syndrome: Two cases with severe scoliosis. Clin Dysmorphol 11:121-124
31. Weaver DA, Graham CB, Thomas IT, Smith DW (1974) A new overgrowth syndrome with accelerated skeletal maturation, unusual facies and camptodactyly. J Pediatr 44:547-552