MLPA analysis in 30 Sotos syndrome patients revealed one total NSD1 deletion and two partial deletions not previously reported

European Journal of Medical Genetics

Volumn 52, Issue 5, 2009, Pages 333-336

  Fagali, Claudia ^a   Kok, Fernando ^a,b   Nicola, Pablo ^c   Kim, Chong ^b   Bertola, Débora ^b   Albano, Lílian ^b   Koiffmann, Célia P ^a  

^a Institute of Biosciences   (Brazil)

^b UNIVERSITY OF SÃO PAULO   (Brazil)

^c FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

Chromosome 5; FGFR4 gene; Microdeletion; MLPA; NSD1 gene; Sotos syndrome

Indexed keywords

CELL NUCLEUS RECEPTOR; FIBROBLAST GROWTH FACTOR RECEPTOR 4; NUCLEAR RECEPTOR BINDING SET DOMAIN PROTEIN 1; UNCLASSIFIED DRUG;

ARTICLE; CHILD; CHROMOSOME 5Q; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; DOLICHOCEPHALY; EXON; FEMALE; GENE DELETION; HUMAN; INFANTILE HYPOTONIA; MACROCEPHALY; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NEWBORN JAUNDICE; PHENOTYPE; PRESCHOOL CHILD; SCHOOL CHILD; SOTOS SYNDROME;

ABNORMALITIES, MULTIPLE; CHILD; CHILD, PRESCHOOL; CHROMOSOME BREAKAGE; CHROMOSOMES, HUMAN, PAIR 5; DEVELOPMENTAL DISABILITIES; DNA; EXONS; FACIES; FEMALE; GROWTH DISORDERS; HUMANS; INFANT; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; NUCLEAR PROTEINS; NUCLEIC ACID AMPLIFICATION TECHNIQUES; SEQUENCE DELETION; SYNDROME;

EID: 69049106311     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2009.07.001     Document Type: Article

References (12)

1. Agwu J.C., Shaw N.J., Kirk J., Chapman D., and Cole T.R.P. Growth in Sotos syndrome. Arch. Dis. Child. 80 (1999) 339-342
2. Ambler G. Overgrowth. Best Pratice Res. Clin. Metab. 16 3 (2002) 519-546
3. Douglas J., Hanks S., Temple K.L., Davies S., Murray A., Upadhyaya M., Tomkins S., Hughes H.E., Cole T.R.P., and Rahman N. NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes. Am. J. Hum. Genet. 72 (2003) 132-143
4. Douglas J., Tatton-Brown T., Coleman K., Guerrero S., Berg J., Cole T.R.P., Fitzpatrick D., Gillerot Y., Hughes H.E., Pilz D., Raymond F.L., Temple I.K., Irrthum A., Schouten J.P., and Rahman N. Partial NSD1 deletions cause 5% of Sotos syndrome and are readily identifiable by multiplex ligation dependent probe amplification. J. Med. Genet. 42 (2005) e56
5. Faravelli F. NSD1 mutations in Sotos syndrome. Am. J. Med. Genet. 137C (2005) 24-31
6. 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., and Matsumoto N. Identification of eight novel NSD1 mutation in Sotos syndrome. J. Med. Genet. 40 (2003) 126
7. 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., Kishino T., Fukushima Y., Niikawa N., and Matsumoto N. Haploinsufficiency of NSD1 causes Sotos syndrome. Nat. Genet. 30 (2002) 365-366
8. Kurotaki N., Stankiewics P., Wakui K., Niikawa N., and Lupski J.R. Sotos syndrome common deletion is mediated by directly oriented subunits within inverted SoS-REP low-copy repeats. Hum. Mol. Genet. 14 4 (2005) 535-542
9. 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., Sonada T., Yokoyama T., Uetake K., Sakazume S., Fukushima Y., and Naritomi K. Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletion. J. Med. Genet. 40 (2003) 285-289
10. Saugier-Veber P., Bonnet C., Afenjar A., Drouin-Gerraud V., Coubes C., Fehrenbach S., Holder-Espinasse M., Roume J., Malan V., Portnoi M., Jeanne N., Baumann C., Héron D., David A., Gérard M., Bonneau D., Lacombe D., Cormierdaire V., Villemeur T.B., Frébourg T., and Bürglen L. Heterogeneity of NSD1 alterations in 166 patients with Sotos syndrome. Hum. Mutat. (2007) 1-10
11. Schouten J.P., McElgunn C.J., Waaijer R., Zwijnenburg D., Diepvens F., and Pals G. Relative quantifications of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res. 30 (2002) e57
12. Tatton-Brown K., Douglas J., Coleman K., Baujat G., Cole T., Das S., Horn D., Hughes H.E., Temple I.K., Favarelli F., Waggoner D., Türkmen S., Cormier-Daire V., Irrthum A., and Rahman N. Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. Am. J. Med. Genet. 77 (2005) 193-204