کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
8962717 1646595 2018 17 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Phenotypic consequences of gene disruption by a balanced de novo translocation involving SLC6A1 and NAA15
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی ژنتیک
پیش نمایش صفحه اول مقاله
Phenotypic consequences of gene disruption by a balanced de novo translocation involving SLC6A1 and NAA15
چکیده انگلیسی
Mapping of de novo balanced chromosomal translocations (BCTs) in patients with sporadic poorly characterized disease(s) is an unbiased method of finding candidate gene(s) responsible for the observed symptoms. We present a paediatric patient suffering from epilepsy, developmental delay (DD) and atrial septal defect IIº (ASD) requiring surgery. Karyotyping indicated an apparently balanced de novo reciprocal translocation 46,XX,t(3;4)(p25.3;q31.1), whereas aCGH did not reveal any copy number changes. Using shallow mate-pair whole genome sequencing and direct Sanger sequencing of breakpoint regions we found that translocation disrupted SLC6A1 and NAA15 genes. Our results confirm two previous reports indicating that loss of function of a single allele of SLC6A1 causes epilepsy. In addition, we extend existing evidence that disruption of NAA15 is associated with DD and with congenital heart defects.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: European Journal of Medical Genetics - Volume 61, Issue 10, October 2018, Pages 596-601
نویسندگان
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