Abstract
Microduplications involving 1q32.1 chromosomal region have been rarely reported in literature. Patients with these microduplications suffer from intellectual disability, developmental delay and a number of dysmorphic features, although no clear karyotype/phenotype correlation has yet been determined. In this case report we describe two monochorionic-diamniotic twins with intellectual disability, abnormality of coordination and dysmorphic features associated with a de novo 280 kb mosaic microduplication of 1q32.1 chromosomal region, identified using a Chromosome Microarray Analysis (CMA) and confirmed by quantitative PCR analysis. The duplicated region encompassed entirely three OMIM genes KDM5B (*605393), KLHL12 (*614522), RABIF (*603417) and involved partially SYT2 (*600104). This unique case report allows to redefine the critical 1q32.1 microduplicated region implicated in the ethiopathogenesis of intellectual disability and developmental delay. Furthermore, it suggests that KDM5B gene can have a pivotal role in the development of neurodevelopmental disorders through its demethylase activity.
| Original language | English |
|---|---|
| Journal | European Journal of Medical Genetics |
| DOIs | |
| Publication status | Accepted/In press - Jan 1 2018 |
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Keywords
- 1q32.1 region
- Histone demethylase
- KDM5B gene
- Microduplication
- Monochorionic-diamniotic twins
- Mosaicism
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)
Cite this
A novel mosaic 1q32.1 microduplication identified through Chromosome Microarray Analysis : narrowing the smallest critical region including KDM5B gene found associated with neurodevelopmetal disorders. / Miolo, Gianmaria; Giuffrida, Maria Grazia; Corona, Giuseppe; Capalbo, Anna; Pivetta, Barbara; Tessitori, Giovanni; Bernardini, Laura.
In: European Journal of Medical Genetics, 01.01.2018.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - A novel mosaic 1q32.1 microduplication identified through Chromosome Microarray Analysis
T2 - narrowing the smallest critical region including KDM5B gene found associated with neurodevelopmetal disorders
AU - Miolo, Gianmaria
AU - Giuffrida, Maria Grazia
AU - Corona, Giuseppe
AU - Capalbo, Anna
AU - Pivetta, Barbara
AU - Tessitori, Giovanni
AU - Bernardini, Laura
PY - 2018/1/1
Y1 - 2018/1/1
N2 - Microduplications involving 1q32.1 chromosomal region have been rarely reported in literature. Patients with these microduplications suffer from intellectual disability, developmental delay and a number of dysmorphic features, although no clear karyotype/phenotype correlation has yet been determined. In this case report we describe two monochorionic-diamniotic twins with intellectual disability, abnormality of coordination and dysmorphic features associated with a de novo 280 kb mosaic microduplication of 1q32.1 chromosomal region, identified using a Chromosome Microarray Analysis (CMA) and confirmed by quantitative PCR analysis. The duplicated region encompassed entirely three OMIM genes KDM5B (*605393), KLHL12 (*614522), RABIF (*603417) and involved partially SYT2 (*600104). This unique case report allows to redefine the critical 1q32.1 microduplicated region implicated in the ethiopathogenesis of intellectual disability and developmental delay. Furthermore, it suggests that KDM5B gene can have a pivotal role in the development of neurodevelopmental disorders through its demethylase activity.
AB - Microduplications involving 1q32.1 chromosomal region have been rarely reported in literature. Patients with these microduplications suffer from intellectual disability, developmental delay and a number of dysmorphic features, although no clear karyotype/phenotype correlation has yet been determined. In this case report we describe two monochorionic-diamniotic twins with intellectual disability, abnormality of coordination and dysmorphic features associated with a de novo 280 kb mosaic microduplication of 1q32.1 chromosomal region, identified using a Chromosome Microarray Analysis (CMA) and confirmed by quantitative PCR analysis. The duplicated region encompassed entirely three OMIM genes KDM5B (*605393), KLHL12 (*614522), RABIF (*603417) and involved partially SYT2 (*600104). This unique case report allows to redefine the critical 1q32.1 microduplicated region implicated in the ethiopathogenesis of intellectual disability and developmental delay. Furthermore, it suggests that KDM5B gene can have a pivotal role in the development of neurodevelopmental disorders through its demethylase activity.
KW - 1q32.1 region
KW - Histone demethylase
KW - KDM5B gene
KW - Microduplication
KW - Monochorionic-diamniotic twins
KW - Mosaicism
UR - http://www.scopus.com/inward/record.url?scp=85055966185&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85055966185&partnerID=8YFLogxK
U2 - 10.1016/j.ejmg.2018.10.010
DO - 10.1016/j.ejmg.2018.10.010
M3 - Article
JO - European Journal of Medical Genetics
JF - European Journal of Medical Genetics
SN - 1769-7212
ER -