7q35 Microdeletion and 15q13.3 and Xp22.33 Microduplications in a Patient with Severe Myoclonic Epilepsy, Microcephaly, Dysmorphisms, Severe Psychomotor Delay and Intellectual Disability.
Genes (Basel)
; 11(5)2020 05 08.
Article
in En
| MEDLINE
| ID: mdl-32397165
ABSTRACT
Copy number variations (CNVs) play a key role in the pathogenesis of several diseases, including a wide range of neurodevelopmental disorders. Here, we describe the detection of three CNVs simultaneously in a female patient with evidence of severe myoclonic epilepsy, microcephaly, hypertelorism, dimorphisms as well as severe psychomotor delay and intellectual disability. Array-CGH analysis revealed a â¼240 kb microdeletion at the 7q35 inherited from her father, a â¼538 kb microduplication at the 15q13.3 region and a â¼178 kb microduplication at Xp22.33 region, both transmitted from her mother. The microdeletion in 7q35 was included within an intragenic region of the contactin associated protein-like 2 (CNTNAP2) gene, whereas the microduplications at 15q13.3 and Xp22.33 involved the cholinergic receptor nicotinic alpha 7 subunit (CHRNA7) and the cytokine receptor-like factor 2 (CRLF2) genes, respectively. Here, we describe a female patient harbouring three CNVs whose additive contribution could be responsible for her clinical phenotypes.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Chromosomes, Human, Pair 7
/
Chromosomes, Human, Pair 15
/
Epilepsies, Myoclonic
/
Chromosomes, Human, X
/
Neurodevelopmental Disorders
/
Microcephaly
Type of study:
Prognostic_studies
Limits:
Adult
/
Female
/
Humans
Language:
En
Journal:
Genes (Basel)
Year:
2020
Document type:
Article
Affiliation country:
Italy