A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign
Abstract Background 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. Case presen...
| Main Authors: | , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2019-06-01
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| Series: | Molecular Cytogenetics |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s13039-019-0440-6 |
| _version_ | 1818108071211171840 |
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| author | Fabrizia Restaldi Viola Alesi Angela Aquilani Silvia Genovese Serena Russo Valentina Coletti Daniele Pompili Roberto Falasca Bruno Dallapiccola Rossella Capolino Matteo Luciani Antonio Novelli |
| author_facet | Fabrizia Restaldi Viola Alesi Angela Aquilani Silvia Genovese Serena Russo Valentina Coletti Daniele Pompili Roberto Falasca Bruno Dallapiccola Rossella Capolino Matteo Luciani Antonio Novelli |
| author_sort | Fabrizia Restaldi |
| collection | DOAJ |
| description | Abstract Background 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. Case presentation 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. Conclusions 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. |
| first_indexed | 2024-12-11T02:09:31Z |
| format | Article |
| id | doaj.art-cb1066c694bd4ade93b7ce912dab3efc |
| institution | Directory Open Access Journal |
| issn | 1755-8166 |
| language | English |
| last_indexed | 2024-12-11T02:09:31Z |
| publishDate | 2019-06-01 |
| publisher | BMC |
| record_format | Article |
| series | Molecular Cytogenetics |
| spelling | doaj.art-cb1066c694bd4ade93b7ce912dab3efc2022-12-22T01:24:19ZengBMCMolecular Cytogenetics1755-81662019-06-011211510.1186/s13039-019-0440-6A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benignFabrizia Restaldi0Viola Alesi1Angela Aquilani2Silvia Genovese3Serena Russo4Valentina Coletti5Daniele Pompili6Roberto Falasca7Bruno Dallapiccola8Rossella Capolino9Matteo Luciani10Antonio Novelli11Bambino Gesù Children’s HospitalBambino Gesù Children’s HospitalBambino Gesù Children’s HospitalBambino Gesù Children’s HospitalBambino Gesù Children’s HospitalBambino Gesù Children’s HospitalBambino Gesù Children’s HospitalBambino Gesù Children’s HospitalBambino Gesù Children’s HospitalBambino Gesù Children’s HospitalBambino Gesù Children’s HospitalBambino Gesù Children’s HospitalAbstract Background 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. Case presentation 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. Conclusions 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.http://link.springer.com/article/10.1186/s13039-019-0440-6Complex chromosomal rearrangementsRUNX1T11p22.1p21.3 duplication8q21.3q22.1 deletion |
| spellingShingle | Fabrizia Restaldi Viola Alesi Angela Aquilani Silvia Genovese Serena Russo Valentina Coletti Daniele Pompili Roberto Falasca Bruno Dallapiccola Rossella Capolino Matteo Luciani Antonio Novelli A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign Molecular Cytogenetics Complex chromosomal rearrangements RUNX1T1 1p22.1p21.3 duplication 8q21.3q22.1 deletion |
| title | A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign |
| title_full | A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign |
| title_fullStr | A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign |
| title_full_unstemmed | A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign |
| title_short | A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign |
| title_sort | familial chromosomal complex rearrangement confirms runx1t1 as a causative gene for intellectual disability and suggests that 1p22 1p21 3 duplication is likely benign |
| topic | Complex chromosomal rearrangements RUNX1T1 1p22.1p21.3 duplication 8q21.3q22.1 deletion |
| url | http://link.springer.com/article/10.1186/s13039-019-0440-6 |
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