A complex chromosome 7q rearrangement identified in a patient with mental retardation, anxiety disorder, and autistic features

Dauwerse, J.G.; Ruivenkamp, C.A.; Hansson, K.; Marijnissen, G.M.; Peters, D.J.M.; Breuning, M.H.; Hilhorst-Hofstee, Y.

doi:doi:10.1002/ajmg.a.33203

We have characterized a de novo complex rearrangement of the long arm of chromosome 7 in a female patient with moderate mental retardation (MR), anxiety disorder, and autistic features. G-banding suggested a de novo paracentric inversion 46,XX,inv(7)(q31.3q34). However, SNP-array analysis, showed a +/-10 Mb, 7q21.11-q21.3 deletion in the paternal chromosome. Subsequent FISH analysis with BAC/PAC clones in the 7q21-q35 region confirmed this deletion. However, the expected paracentric inversion turned out to be an intra-chromosomal insertion of the 7q31.31-q35 fragment into band 7q21.3, disrupting the predicted gene C7orf58 in band 7q31.31. Seven other patients have been previously reported with a deletion of 7q21.1-q21.3. Although there is an overlap in phenotype between our patient and these patients, none of them has been described with anxiety disorder and/or autistic features. Therefore we suggest that disruption of the C7orf58 gene might contribute to the anxiety disorder, and...Show moreWe have characterized a de novo complex rearrangement of the long arm of chromosome 7 in a female patient with moderate mental retardation (MR), anxiety disorder, and autistic features. G-banding suggested a de novo paracentric inversion 46,XX,inv(7)(q31.3q34). However, SNP-array analysis, showed a +/-10 Mb, 7q21.11-q21.3 deletion in the paternal chromosome. Subsequent FISH analysis with BAC/PAC clones in the 7q21-q35 region confirmed this deletion. However, the expected paracentric inversion turned out to be an intra-chromosomal insertion of the 7q31.31-q35 fragment into band 7q21.3, disrupting the predicted gene C7orf58 in band 7q31.31. Seven other patients have been previously reported with a deletion of 7q21.1-q21.3. Although there is an overlap in phenotype between our patient and these patients, none of them has been described with anxiety disorder and/or autistic features. Therefore we suggest that disruption of the C7orf58 gene might contribute to the anxiety disorder, and autistic features in our patient.Show less

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A complex chromosome 7q rearrangement identified in a patient with mental retardation, anxiety disorder, and autistic features