RT Journal Article
T1 Language impairment in a case of a complex chromosomal rearrangement with a breakpoint downstream of FOXP2
A1 Moralli, Daniela
A1 Nudel, Ron
A1 Chan, May T. M.
A1 Green, Catherine M.
A1 Volpi, Emanuela V.
A1 Benítez Burraco, Antonio
A1 Newbury, Dianne F.
A1 García Bellido, Paloma
AB Background: We report on a young female, who presents with a severe speech and language disorder and abalanced de novo complex chromosomal rearrangement, likely to have resulted from a chromosome 7pericentromeric inversion, followed by a chromosome 7 and 11 translocation.Results: Using molecular cytogenetics, we mapped the four breakpoints to 7p21.1-15.3 (chromosome position:20,954,043-21,001,537, hg19), 7q31 (chromosome position: 114,528,369-114,556,605, hg19), 7q21.3 (chromosome position:93,884,065-93,933,453, hg19) and 11p12 (chromosome position: 38,601,145-38,621,572, hg19). These regions contain onlynon-coding transcripts (ENSG00000232790 on 7p21.1 and TCONS_00013886, TCONS_00013887, TCONS_00014353,TCONS_00013888 on 7q21) indicating that no coding sequences are directly disrupted. The breakpoint on 7q31 mapped200 kb downstream of FOXP2, a well-known language gene. No splice site or non-synonymous coding variants werefound in the FOXP2 coding sequence. We were unable to detect any changes in the expression level of FOXP2 infibroblast cells derived from the proband, although this may be the result of the low expression level of FOXP2 inthese cells.Conclusions: We conclude that the phenotype observed in this patient either arises from a subtle change in FOXP2regulation due to the disruption of a downstream element controlling its expression, or from the direct disruption ofnon-coding RNAs.
PB BioMed Central
SN 10.1186/s13039-015-0148-1
SN 1755-8166
YR 2015
FD 2015
LK http://hdl.handle.net/10272/10830
UL http://hdl.handle.net/10272/10830
LA eng
NO Moralli, D., Nudel, R., Chan, M.T.M.,  Green, C.M., Volpi, E.V. ; Benítez Burraco, A., Newbury, D.F.,  García Bellido, P.: "Language impairment in a case of a complex chromosomal rearrangement with a breakpoint downstream of FOXP2".  Molecular Cytogenetics. 8:36, (2015). ISSN 1755-8166
DS Repositorio Institucional de la Universidad de Huelva
RD 15 jun 2026