The overlap between Sotos and Beckwith-Wiedemann syndromes

Journal of Pediatrics

Volumn 156, Issue 6, 2010, Pages 1035-1036

  Mussa, Alessandro ^a,b   Chiesa, Nicoletta ^b   Porta, Francesco ^a,b   Baldassarre, Giuseppina ^b   Silengo, Margherita Cirillo ^b   Ferrero, Giovanni Battista ^b  

^a Department of Laboratory Medicine and Pathology ^*  (United States)

^b UNIVERSITY OF TURIN   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLINE; DNA; GROWTH FACTOR;

BECKWITH WIEDEMANN SYNDROME; CHROMOSOME 2; DNA METHYLATION; EPIGENETICS; GENE CONTROL; GENE DELETION; GENE SILENCING; GENOTYPE; HEPATOBLASTOMA; HUMAN; LETTER; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SOTOS SYNDROME;

BECKWITH-WIEDEMANN SYNDROME; CHROMOSOMES, HUMAN, PAIR 11; DNA METHYLATION; GENETIC PREDISPOSITION TO DISEASE; GIGANTISM; HEPATOBLASTOMA; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; LIVER NEOPLASMS; MUTATION; NUCLEAR PROTEINS; PHENOTYPE; SYNDROME; ZINC FINGERS;

EID: 77952289505     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpeds.2010.02.063     Document Type: Letter

References (7)

1. Kato M., Takita J., Takahashi K., Mimaki M., Chen Y., Koh K., et al. Hepatoblastoma in a patient with Sotos syndrome. J Pediatr 155 (2009) 937-939
2. Saugier-Veber P., Bonnet C., Afenjar A., Drouin-Garraud V., Coubes C., Fehrenbach S., et al. Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome. Hum Mutat 28 (2007) 1098-1107
3. Weksberg R., Shuman C., and Beckwith J.B. Beckwith-Wiedemann syndrome. Eur J Hum Genet 18 (2009) 8-14
4. Baujat G., Rio M., Rossignol S., Sanlaville D., Lyonnet S., Le Merrer M., et al. Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome. Am J Hum Genet 74 (2004) 715-720
5. Rayasam G.V., Wendling O., Angrand P.O., Mark M., Niederreither K., Song L., et al. NSD1 is essential for early post-implantation development and has a catalytically active SET domain. EMBO J 22 (2003) 3153-3163
6. Honda S., Arai Y., Haruta M., Sasaki F., Ohira M., Yamaoka H., et al. Loss of imprinting of IGF2 correlates with hypermethylation of the H19 differentially methylated region in hepatoblastoma. Br J Cancer 99 (2008) 1891-1899
7. Berdasco M., Ropero S., Setien F., Fraga M.F., Lapunzina P., Losson R., et al. Epigenetic inactivation of the Sotos overgrowth syndrome gene histone methyltransferase NSD1 in human neuroblastoma and glioma. Proc Natl Acad Sci USA 106 (2009) 21830-21835