A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign

Complex chromosomal rearrangements are constitutive structural aberrations involving three or more breaks. They can be balanced or unbalanced and result in different outcomes, depending on deletion/duplication of genomic material, gene disruption, or position effects. We report on a patient presenti...

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Bibliographic Details
Published in:Molecular cytogenetics 2019-06, Vol.12 (1), p.26-5, Article 26
Main Authors: Restaldi, Fabrizia, Alesi, Viola, Aquilani, Angela, Genovese, Silvia, Russo, Serena, Coletti, Valentina, Pompili, Daniele, Falasca, Roberto, Dallapiccola, Bruno, Capolino, Rossella, Luciani, Matteo, Novelli, Antonio
Format: Article
Language:English
Subjects:
1p22.1p21.3 duplication
8q21.3q22.1 deletion
Anemia
Artificial chromosomes
Benign
Bone marrow
Case Report
Chromosome 1
Chromosome rearrangements
Chromosomes
Complex chromosomal rearrangements
Deoxyribonucleic acid
Diagnosis
DNA
Gene deletion
Gene disruption
Gene duplication
Gene rearrangement
Genes
Genetic aspects
Genetic engineering
Genetic testing
Genomes
Genotype & phenotype
Hybridization
Intellectual disabilities
Position effects
Recombination
RUNX1T1
Software
Splenomegaly
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Summary:Complex chromosomal rearrangements are constitutive structural aberrations involving three or more breaks. They can be balanced or unbalanced and result in different outcomes, depending on deletion/duplication of genomic material, gene disruption, or position effects. We report on a patient presenting with severe anemia, splenomegaly, mild intellectual disability and facial dysmorphisms harboring a 4.3 Mb duplication at 1p22.1p21.3 and a 2.1 Mb deletion at 8q21.3q22.1, involving RUNX1T1 gene. The healthy brother presented the same duplication of chromosome 1p as at 1p22.1p21.3. The rearrangement found both these siblings resulted from malsegregation in the proband and recombination in her healthy brother of a balanced paternal complex chromosomal rearrangement. These results confirm RUNX1T1 as a causative gene for intellectual disability and suggest the 1p22.1p21.3 duplication is likely benign.
ISSN:1755-8166
1755-8166
DOI:10.1186/s13039-019-0440-6