کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
8644613 | 1569763 | 2018 | 22 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Whole exome sequencing identifies a novel 5â¯Mb deletion at 14q12 region in a patient with global developmental delay, microcephaly and seizures
دانلود مقاله + سفارش ترجمه
دانلود مقاله ISI انگلیسی
رایگان برای ایرانیان
کلمات کلیدی
CDKL5WESOMIMSTRISCNFOXG1Mecp2GAPDHProtein kinase D1Nova1RTTDNA - DNA یا اسید دزوکسی ریبونوکلئیکBAC - LACdeoxyribonucleic acid - اسید deoxyribonucleicRNA - اسید ریبونوکلئیکribonucleic acid - اسید ریبونوکلئیکcopy number variation - تنوع نسخه کپیExome sequencing - توالی ExomeWhole exome sequencing - توالی کامل exomeShort tandem repeat - تکرار کوتاه مدتRett syndrome - سندروم رتInternational System for Human Cytogenetic Nomenclature - سیستم بین المللی اسناد سیتوژنتیک انسانDECIPHER - قاضیFish - ماهیconifer - مخروطیFluorescence in-situ hybridization - هیبریداسیون موضعی فلورسانسOnline Mendelian Inheritance in Man - وراث آنلاین مندلیان در انسانmethyl-CpG-binding protein 2 - پروتئین متصل CpG متیل 2bacterial artificial chromosome - کروموزوم مصنوعی باکتریاییglyceraldehyde-3-phosphate dehydrogenase - گلیسرالیدید-3-فسفات دهیدروژناز
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
ژنتیک
پیش نمایش صفحه اول مقاله
چکیده انگلیسی
Rett syndrome is a neurodevelopmental disorder affecting the nervous, musculoskeletal and gastroenteric systems. Affected individuals show normal neonatal development for 6-18â¯months followed by sudden growth arrest, psychomotor retardation and a broad spectrum of clinical features. Sequence variants in MECP2 gene have been identified as the major genetic etiology accounting for 90-95% of patients. Apart from MECP2, pathogenic sequence variants and copy number variants of FOXG1 gene lead to congenital type of Rett syndrome which is a more severe form and characterised by absence of early normal development as seen in classical Rett syndrome. In this report we describe a female child with global developmental delay, microcephaly and myoclonic seizures harbouring a 5â¯Mb deletion in 14q12 locus resulting in deletion of single copy of brain specific genes FOXG1, PRKD1 and NOVA1. Whole exome sequencing ruled out any possible role of other pathogenic single nucleotide variants and/or indels as the etiology for the observed phenotype. However, copy number variation analysis from the whole exome data detected a ~ 5â¯Mb microdeletion at the long arm of chromosome 14q12 region. The deletion was confirmed through array Comparative Genomic Hybridization and validated by quantitative PCR. Further, parents were analysed for mosaicism through metaphase Fluorescence in-situ Hybridisation. Our report broadens the phenotype of atypical Rett syndrome and reiterates the role of exome sequencing not only in detection of point mutation/small indels but also for detection of large deletions/duplication in coding regions.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Gene - Volume 673, 5 October 2018, Pages 56-60
Journal: Gene - Volume 673, 5 October 2018, Pages 56-60
نویسندگان
Venugopal S. Vineeth, Usha R. Dutta, Karthik Tallapaka, Aneek Das Bhowmik, Ashwin Dalal,