Homozygous exonic and intragenic NRXN1 deletion presenting as either West syndrome or autism spectrum disorder in two siblings

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dc.authorid0000-0001-6930-7148
dc.contributor.authorAksu Uzunhan, Tuğçe
dc.contributor.authorAyaz, Akif
dc.date.accessioned2022-02-24T10:56:57Z
dc.date.available2022-02-24T10:56:57Z
dc.date.issued2022
dc.departmentİstanbul Medipol Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Tıbbi Genetik Ana Bilim Dalı
dc.description.abstractNeurexins (NRXNs) are cell-adhesion molecules that play critical roles in establishing and maintaining synaptic connections. Humans have three NRXN genes (NRXN1, NRXN2, NRXN3) and heterozygous intragenic microdeletions involving NRXN1 have been associated with autism spectrum disorder, attention deficit hyperactivity disorder, intellectual disability, seizures, schizophrenia, and bipolar disorder. Bi-allelic loss in NRXN1 produces a recessive and severe phenotype. We would like to describe the clinical, electroencephalographic, and genetic findings of two siblings, one with a neurodevelopmental disorder with infantile spasms and the other with autism spectrum disorder, having homozygous exonic NRXN1 deletion. A suspicious variant was not detected in the whole exome-sequencing but copy number variation analysis revealed NRXN1 exon 2–5 homozygous deletion (chr2:51149007–51255411; 106.404 kb) in both siblings. Neurodevelopmental disorder with infantile spasms and autism spectrum disorder in two siblings with homozygous NRXN1 deletion display intrafamilial phenotypic variation. Bi-allelic/homozygous NRXN1 exonic deletions are responsible for a spectrum from significant intellectual disability to epileptic encephalopathy, even within the same family. Array comparative genomic hybridization should be the first genetic testing in epileptic encephalopathy although we reached the diagnosis with next-generation sequencing and later copy number variation analysis.
dc.identifier.citationAksu Uzunhan, T. ve Ayaz, A. (2022). Homozygous exonic and intragenic NRXN1 deletion presenting as either West syndrome or autism spectrum disorder in two siblings. Clinical Neurology and Neurosurgery, 214. http://doi.org/10.1016/j.clineuro.2022.107141
dc.identifier.doi10.1016/j.clineuro.2022.107141
dc.identifier.issn0303-8467
dc.identifier.issn1872-6968
dc.identifier.pmid35101781
dc.identifier.scopus2-s2.0-85123691593
dc.identifier.scopusqualityQ2
dc.identifier.urihttp://doi.org/10.1016/j.clineuro.2022.107141
dc.identifier.urihttps://hdl.handle.net/20.500.12511/8993
dc.identifier.volume214
dc.identifier.wos000787894300002en_US
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorAyaz, Akif
dc.language.isoen
dc.publisherElsevier B.V.
dc.relation.ispartofClinical Neurology and Neurosurgeryen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/embargoedAccess
dc.subjectArray Comparative Genomic Hybridization
dc.subjectEpilepsy
dc.subjectNeurexin 1
dc.subjectPitt-Hopkins-Like Syndrome 2
dc.subjectSeizures
dc.titleHomozygous exonic and intragenic NRXN1 deletion presenting as either West syndrome or autism spectrum disorder in two siblings
dc.typeArticle

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