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

Author(s)

Fagali, Claudia ^[1] ; Kok, Fernando ^{[1, 2]} ; Nicola, Pablo ^[3] ; Kim, Chong ^[4] ; Bertola, Debora ^[4] ; Albano, Lilian ^[4] ; Koiffmann, Celia P. ^[1]

Affiliation

^[1] Univ Sao Paulo, Ctr Human Genome Res, Dept Genet & Evolutionary Biol, Inst Biosci, Sao Paulo - Brazil

^[2] Univ Sao Paulo, Sch Med, Dept Neurol, Child Neurol Serv, Hosp Clin, Sao Paulo - Brazil

^[3] Univ Fed Sao Paulo, Dept Morphol, Sao Paulo - Brazil

^[4] Univ Sao Paulo, Sch Med, Genet Unit, Childrens Inst, Hosp Clin, Sao Paulo - Brazil

• Document type: Journal article
• Source: EUROPEAN JOURNAL OF MEDICAL GENETICS; v. 52, n. 5, p. 333-336, SEP-OCT 2009.
• Web of Science Citations: 11

Abstract

Sotos syndrome (MIM \#117550) is an autosomal dominant condition characterized by pre and postnatal overgrowth, macrocephaly and typical facial gestalt with frontal bossing, hypertelorism, antimongoloid slant of the palpebral fissures, prominent jaw and high and narrow palate. This syndrome is also frequently associated with brain, cardiovascular, and urinary anomalies and is occasionally accompanied by malignant lesions such as Wilms turnout and hepatocarcinoma. The syndrome is known to be caused by mutations or deletions of the NSD1 gene. To detect both 5q35 microdeletions and partial NSD1 gene deletions we screened 30 Brazilian patients with clinical diagnosis of Sotos syndrome by multiplex ligation dependent probe amplification. We identified one patient with a total deletion of NSD1 and neighbouring FGFR4, other with missing NSD1 exons 13-14 and another with a deletion involving FGFR4 and spanning up to NSD1 exon 17. All deletions were de novo. The two NSD1 partial deletions have not been previously reported. The clinical features of the three patients included a typical facial gestalt with frontal bossing, prominent jaw and high anterior hairline; macrocephaly, dolichocephaly, large hands; neonatal hypotonia and jaundice. All presented normal growth at birth but postnatal overgrowth. Two patients with NSD1 and FGFR4 gene deletions presented congenital heart anomalies. (C) 2009 Elsevier Masson SAS. All rights reserved. (AU)

• FAPESP's process: 05/52039-1 - Sotos syndrome: microdeletions and intragenic mutations in the NSD1 gene studies
• Grantee: Claudia Quadros Fagali
• Support Opportunities: Scholarships in Brazil - Master