dHPLC screening of the NSD1 gene identifies nine novel mutations - Summary of the first 100 sotos syndrome mutations

Annals of Human Genetics

Volumn 69, Issue 2, 2005, Pages 222-226

  Melchior, Linea ^a   Schwartz, Marianne ^a   Duno, Morten ^a  

^a Rigshospitalet   (Denmark)

Author keywords

dHPLC; NSD1; Sotos syndrome

Indexed keywords

DNA; NSD1 PROTEIN; REGULATOR PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; BONE AGE; CLINICAL ARTICLE; CONTROLLED STUDY; CRANIOFACIAL MALFORMATION; EXON; GENETIC POLYMORPHISM; GENETIC SCREENING; GROWTH DISORDER; HAPLOTYPE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; INTERMETHOD COMPARISON; MACROCEPHALY; MENTAL DEFICIENCY; MUTATIONAL ANALYSIS; OPEN READING FRAME; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; SOTOS SYNDROME; VALIDATION PROCESS;

EID: 14944383750     PISSN: 00034800     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1469-1809.2004.00150.x     Document Type: Article

References (20)

1. Amiel, J., Faivre, L., Wilson, L., Le Merrer, M., Munnich, A., Winter, R., Lyonnet, S. & Cormier-Daire V. (2002) Dysmorphism, variable overgrowth, normal bone age, and severe developmental delay: a 'Sotos-like' syndrome? J Med Genet 39(2), 148-152.
2. Baujat, G., Rio, M., Rossignol, S., Sanlaville, D., Lyonnet, S., Le Merrer, M., Munnich, A., Gicquel, C., Cormier-Daire, V. & Colleaux, L. (2004) Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome. Am J Hum Genet 74(4), 715-720.
3. Cohen, M. M., Jr. (1999) Tumors and nontumors in Sotos syndrome. Am J Med Genet 84(2), 173-175.
4. Cole, T. R. & Hughes, H. E. (1994) Sotos syndrome: a study of the diagnostic criteria and natural history. J Med Genet 31 1), 20-32.
5. Douglas, J., Hanks, S., Temple, I. K., Davies, S., Murray, A., Upadhyaya, M., Tomkins, S., Hughes, H. E., Cole, T. R. P. & Rahman, N. (2003) 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 72(1), 132-143.
6. Duno, M., Hove, H., Kirchhoff, M., Devriendt, K. & Schwartz, M. (2004) Mapping genomic deletions down to the base - A quantitative copy number scanning approach used to characterise and clone the breakpoints of a recurrent 7p14.2p15.3 deletion. Hum Genet 115 6), 459-462.
7. Hersh, J. H., Cole, T. R., Bloom, A. S., Bertolone, S. J. & Hughes, H. E. (1992) Risk of malignancy in Sotos syndrome. J Pediatr 120(4 Pt 1), 572-574.
8. Hoglund, P., Kurotaki, N., Kytola, S., Miyake, N., Somer, M. & Matsumoto, N. (2003) Familial sotos deletion of the syndrome is caused by a novel 1 bp NSD1 gene. Journal of Medical Genetics 40(1), 51-54.
9. 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(1), 58-60.
10. Kamimura, J., Endo, Y., Kurotaki, N., Kinoshita, A., Miyake, N., Shimokawa, O., Harada, N., Visser, R., Ohashi, H., Miyakawa, K., Gerritsen, J., Innes, A. M., 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. (2003) Identification of eight novel NSD1 mutations in Sotos syndrome. Journal of Medical Genetics 40 (11).
11. 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, J. F., Yoshiura, K., Ohta, T., Kishino, T., Niikawa, N. & Matsumoto, N. (2003) Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion. Human Mutation 22(5), 378-387.
12. 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, H. A., Kinoshita, A., Mizuguchi, T., Yoshiura Ki, K., Ohta, T., Kishino, T., Fukushima, Y., Niikawa, N. & Matsumoto, N. (2002) Haploinsufficiency of NSD1 causes Sotos syndrome. Nat Genet 30(4), 365-366.
13. 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., Yokoyama, T., Uetake, K., Sakazume, S., Fukushima, Y. & Naritomi, K. (2003) Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions. Journal of Medical Genetics 40(4), 285-289.
14. Opitz, J. M., Weaver, D. W. & Reynolds, J. F., Jr. (1998) The syndromes of Sotos and Weaver: reports and review. Am J Med Genet 79(4), 294-304.
15. 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. (2003) Spectrum of NSD1 mutations in Sotos and Weaver syndromes. Journal of Medical Genetics 40(6), 436-440.
16. Schouten, J. P., McElgunn, C. J., Waaijer, R., Zwijnenburg, D., Diepvens, F. & Pals, G. (2002) Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 30(12), e57.
17. Sotos, J. F., Dodge, P. R., Muirhead, D., Crawford, J. D. & Talbot, N. B. (1964) Cerebral Gigantism in Childhood. A Syndrome of Excessively Rapid Growth and Acromegalic Features and a Nonprogressive Neurologic Disorder. N Engl J Med 271, 109-116.
18. Turkmen, S., Gillessen-Kaesbach, G., Meinecke, P., Albrecht, B., Neumann, L. M., Hesse, V., Palanduz, S., Balg, S., Majewski, F., Fuchs, S., Zschieschang, P., Greiwe, M., Mennicke, K., Kreuz, F. R., H. Dehmel, J., Rodeck, B., Kunze, J., Tinschert, S., Mundlos, S. & Horn, D. (2003) Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes. European Journal of Human Genetics 11(11), 858-865.
19. Visser, R. & Matsumoto, N. (2003) Genetics of Sotos syndrome. Current Opinion in Pediatrics 15(6), 598-606.
20. Winship, I. M. (1985) Sotos syndrome-autosomal dominant inheritance substantiated. Clin Genet 28(3), 243-246.