دورية أكاديمية
Autosomal Recessive Primary Microcephaly (MCPH) and Novel Pathogenic Variants in ASPM and WDR62 Genes.
| العنوان: | Autosomal Recessive Primary Microcephaly (MCPH) and Novel Pathogenic Variants in ASPM and WDR62 Genes. |
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| المؤلفون: | Bolat H; Department of Medical Genetics, Balıkesir University Faculty of Medicine, Balıkesir, Turkey., Sağer SG; Clinics of Pediatric Neurology, Kartal Dr. Lütfi Kırdar City Hospital, Istanbul, Turkey., Türkyılmaz A; Department of Medical Genetics, Faculty of Medicine, Karadeniz Technical University Trabzon, Trabzon, Turkey., Çebi AH; Department of Medical Genetics, Faculty of Medicine, Karadeniz Technical University Trabzon, Trabzon, Turkey., Akın Y; Clinics of Pediatrics, Kartal Dr. Lütfi Kırdar City Hospital, Istanbul, Turkey., Onay H; Multigen Genetics Center, Izmir, Turkey., Özkınay F; Department of Pediatrics, Division of Pediatric Genetics, Ege University Faculty of Medicine, Izmir, Turkey., Ünsel-Bolat G; Department of Child and Adolescent Psychiatry, Balıkesir University Faculty of Medicine, Balıkesir, Turkey.; Department of Neuroscience, Ege University, Izmir, Turkey. |
| المصدر: | Molecular syndromology [Mol Syndromol] 2022 Dec; Vol. 13 (5), pp. 363-369. Date of Electronic Publication: 2022 Apr 27. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101525192 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1661-8769 (Print) Linking ISSN: 16618769 NLM ISO Abbreviation: Mol Syndromol Subsets: PubMed not MEDLINE |
| أسماء مطبوعة: | Original Publication: Basel : S. Karger |
| مستخلص: | Introduction: 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. Competing Interests: The authors declare no conflicts of interest. (Copyright © 2022 by S. Karger AG, Basel.) |
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| فهرسة مساهمة: | Keywords: ASPM; Autosomal recessive; MCPH; Novel variant; WDR62; Whole-exome sequencing |
| تواريخ الأحداث: | Date Created: 20230102 Latest Revision: 20230602 |
| رمز التحديث: | 20240628 |
| مُعرف محوري في PubMed: | PMC9801316 |
| DOI: | 10.1159/000524391 |
| PMID: | 36588751 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1661-8769 |
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| DOI: | 10.1159/000524391 |