An 11q11-q13.3 duplication, including FGF3 and FGF4 genes, in a patient with syndromic multiple craniosynostoses.
Interstitial duplications of 11q are very rare and seldom reported. In this paper we describe the first case of a duplication involving bands 11q11 and 11q12. This newly described patient has multiple craniosynostoses, congenital heart defect and developmental delay, and is a carrier of a mosaic duplication: 46,XY,dup(11)(q11-->q13.3)(29)/46,XY(6). The breakpoints were further delimited by comparative genomic hybridization microarray. We also performed fluorescent in situ hybridization analysis to determine the extension of the duplication in a patient described earlier with a duplication 11q13.5-q21. An overlapping region of less than 1.2 Mb was identified and included the duplication of genes FGF3 and FGF4 in both individuals. We discuss the possible implications of dosage effects of these genes in the onset of craniosynostosis.
Jehee
Fernanda S
FS
Centro de Estudos do Genoma Humano, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, SP, Brazil.
Bertola
Débora R
DR
Yelavarthi
Krishna K
KK
Krepischi-Santos
Ana C V
AC
Kim
Chong
C
Vianna-Morgante
Angela M
AM
Vermeesch
Joris R
JR
Passos-Bueno
Maria Rita
MR
D002648:Child; D002869:Chromosome Aberrations; D002880:Chromosomes, Human, Pair 11; D003398:Craniosynostoses / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D051518:Fibroblast Growth Factor 3 / Q000235:genetics*; D051519:Fibroblast Growth Factor 4 / Q000235:genetics*; D020440:Gene Duplication; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D013577:Syndrome
C496444:FGF3 protein, human; C496445:FGF4 protein, human; D051518:Fibroblast Growth Factor 3; D051519:Fibroblast Growth Factor 4