TY - JOUR
T1 - 7q35 microdeletion and 15q13.3 and xp22.33 microduplications in a patient with severe myoclonic epilepsy, microcephaly, dysmorphisms, severe psychomotor delay and intellectual disability
AU - Paduano, Francesco
AU - Colao, Emma
AU - Loddo, Sara
AU - Orlando, Valeria
AU - Trapasso, Francesco
AU - Novelli, Antonio
AU - Perrotti, Nicola
AU - Iuliano, Rodolfo
N1 - Publisher Copyright:
© 2020 by the authors. Licensee MDPI, Basel, Switzerland.
PY - 2020/5
Y1 - 2020/5
N2 - 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 ∼240 kb microdeletion at the 7q35 inherited from her father, a ∼538 kb microduplication at the 15q13.3 region and a ∼178 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.
AB - 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 ∼240 kb microdeletion at the 7q35 inherited from her father, a ∼538 kb microduplication at the 15q13.3 region and a ∼178 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.
KW - CHRNA7
KW - CNTNAP2
KW - Copy number variants (CNVs)
KW - CRLF2
KW - Microdeletion
KW - Microduplication
KW - Neurodevelopmental disorders
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U2 - 10.3390/genes11050525
DO - 10.3390/genes11050525
M3 - Article
C2 - 32397165
AN - SCOPUS:85084498089
VL - 11
JO - Genes
JF - Genes
SN - 2073-4425
IS - 5
M1 - 525
ER -