Clinical and genetic analyses in syndromic intellectual disability with primary microcephaly reveal biallelic and de novo variants in patients with parental consanguinity
Yazarlar (6)
Dr. Öğr. Üyesi Sevcan MERCAN Kafkas Üniversitesi, Türkiye
Nihan Hande Akçakaya
Demiroğlu Bilim Üniversitesi, Türkiye
Demiroğlu Bilim Üniversitesi, Türkiye
Barış Salman Istanbul Üniversitesi, Türkiye
Zühal Yapıcı İstanbul Üniversitesi, Türkiye
Uğur Özbek Acıbadem Mehmet Ali Aydınlar Üniversitesi, Türkiye
Sibel Aylin Uğur İşeri İstanbul Üniversitesi, Türkiye
| Makale Türü |
Özgün Makale
(SSCI, AHCI, SCI, SCI-Exp dergilerinde yayınlanan tam makale)
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| Dergi Adı | Genes and Genomics (Q4) | ||
| Dergi ISSN | 1976-9571 Wos Dergi Scopus Dergi | ||
| Dergi Tarandığı Indeksler | SCI-Expanded | ||
| Makale Dili | Türkçe | Basım Tarihi | 01-2022 |
| Cilt / Sayı / Sayfa | 45 / 1 / 13–21 | DOI | 10.1007/s13258-022-01344-8 |
| Makale Linki | https://www.springer.com/journal/13258?gclid=CjwKCAjwtp2bBhAGEiwAOZZTuBMASw1_KmlbyHkDAF9H9Mt1-nuTt35NkO6eq7X8WZ68apPQR1TY-BoCZdoQAvD_BwE | ||
| Özet |
| BackgroundSyndromic intellectual disability (ID) with accompanying primary microcephaly is a group of rare neurodevelopmental disorders exhibiting extreme genetic and clinical heterogeneity. This layered heterogeneity can partially be resolved by unbiased genetic approaches targeting the genome with next generation sequencing (NGS) technologies, including exome sequencing (ES).ObjectiveThis study was performed to dissect the clinical and genetic features in five distinct IDM cases.MethodsSingleton or trio ES approach followed by in-depth variant analysis using alternative inheritance models was performed.ResultsWe have identified biallelic loss of function variants in genes WDR62 and AP4M1 in three families, together with de novo missense variants in genes SOX11 and TRIO in two families. ES based haplotype analysis in two cases upon identification of an identical WDR62 variant in the … |
| Anahtar Kelimeler |
| AP4M1 | Exome sequencing (ES) | Intellectual disability | Microcephaly | Parent of origin effect | SOX11 | TRIO | WDR62 |
BM Sürdürülebilir Kalkınma Amaçları
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| Google Scholar | 2 |