Autosomal Recessive Primary Microcephaly (MCPH) and Novel Pathogenic Variants in ASPM and WDR62 Genes

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dc.authorscopusid57184185700
dc.authorscopusid57270329600
dc.authorscopusid57205366024
dc.authorscopusid55615577100
dc.authorscopusid57674085100
dc.authorscopusid8929131500
dc.authorscopusid57193795358
dc.contributor.authorBolat H.
dc.contributor.authorSa?er S.G.
dc.contributor.authorTürkyllmaz A.
dc.contributor.authorÇebi A.H.
dc.contributor.authorAkln Y.
dc.contributor.authorOnay H.
dc.contributor.authorÖzklnay F.
dc.date.accessioned2023-01-12T20:23:31Z
dc.date.available2023-01-12T20:23:31Z
dc.date.issued2022
dc.departmentN/A/Departmenten_US
dc.description.abstractIntroduction: Autosomal recessive primary microcephaly (MCPH) is a disorder characterized by congenital microcephaly and intellectual disability without extra-central nervous system malformation. MCPH is a disease with heterogeneity in genotype and phenotype. For this reason, it is important to determine the genetic causes and genotype-phenotype relationship in MCPH, which causes lifelong impairment. In this study, we aimed to evaluate the clinical, genetic, and brain imaging findings of cases diagnosed with MCPH. Methods: Electroencephalogram and brain magnetic resonance imaging were performed for all cases. We evaluated genetic results of the 39 families including cases with suspected MCPH diagnosis. Results: Genetic diagnosis related to MCPH was provided in 11/39 (28.2%) of these families including 13/41 cases (31.7%). Variants of the WDR62 gene were the most common (61.5%) cause, and variants of the ASPM gene were the second most common cause (38.5%). We have found 6 novel variants and 4 previously reported variants in ASPM and WDR62 genes. Main brain imaging findings in our cases were lissencephaly, polymicrogyria, schizencephaly, pachygyria, and cortical dysplasia. Genetic counseling in 2 families whose genetic diagnosis was determined prevented them from having another child with MCPH. Discussion/Conclusion: Detection and reporting of novel variants is an important step in eliminating this disorder by providing families with appropriate genetic counseling. © 2022en_US
dc.identifier.doi10.1159/000524391
dc.identifier.endpage369en_US
dc.identifier.issn16618769
dc.identifier.issn1661-8769en_US
dc.identifier.issue5en_US
dc.identifier.scopus2-s2.0-85129736302en_US
dc.identifier.scopusqualityQ4en_US
dc.identifier.startpage363en_US
dc.identifier.urihttps://doi.org/10.1159/000524391
dc.identifier.urihttps://hdl.handle.net/11454/79722
dc.identifier.volume13en_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.publisherS. Karger AGen_US
dc.relation.ispartofMolecular Syndromologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectASPMen_US
dc.subjectAutosomal recessiveen_US
dc.subjectMCPHen_US
dc.subjectNovel varianten_US
dc.subjectWDR62en_US
dc.subjectWhole-exome sequencingen_US
dc.titleAutosomal Recessive Primary Microcephaly (MCPH) and Novel Pathogenic Variants in ASPM and WDR62 Genesen_US
dc.typeArticleen_US

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