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

Fabrizia Restaldi, Viola Alesi, Angela Aquilani, Silvia Genovese, Serena Russo, Valentina Coletti, Daniele Pompili, Roberto Falasca, Bruno Dallapiccola, Rossella Capolino, Matteo Luciani, Antonio Novelli

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)26
JournalMolecular Cytogenetics
Volume12
DOIs
Publication statusPublished - Jun 14 2019

Fingerprint

Intellectual Disability
Siblings
Genes
Chromosome Duplication
Splenomegaly
Chromosomes
Aberrations
Genetic Recombination
Anemia

Cite this

@article{f308c162780e4685b1b2f3ff1b0d6b01,
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",
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.",
author = "Fabrizia Restaldi and Viola Alesi and Angela Aquilani and Silvia Genovese and Serena Russo and Valentina Coletti and Daniele Pompili and Roberto Falasca and Bruno Dallapiccola and Rossella Capolino and Matteo Luciani and Antonio Novelli",
year = "2019",
month = "6",
day = "14",
doi = "10.1186/s13039-019-0440-6",
language = "English",
volume = "12",
pages = "26",
journal = "Molecular Cytogenetics",
issn = "1755-8166",
publisher = "BioMed Central Ltd.",

}

TY - JOUR

T1 - A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign

AU - Restaldi, Fabrizia

AU - Alesi, Viola

AU - Aquilani, Angela

AU - Genovese, Silvia

AU - Russo, Serena

AU - Coletti, Valentina

AU - Pompili, Daniele

AU - Falasca, Roberto

AU - Dallapiccola, Bruno

AU - Capolino, Rossella

AU - Luciani, Matteo

AU - Novelli, Antonio

PY - 2019/6/14

Y1 - 2019/6/14

N2 - 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.

AB - 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.

U2 - 10.1186/s13039-019-0440-6

DO - 10.1186/s13039-019-0440-6

M3 - Article

C2 - 31223340

VL - 12

SP - 26

JO - Molecular Cytogenetics

JF - Molecular Cytogenetics

SN - 1755-8166

ER -