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ZBTB18

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https://www.readbyqxmd.com/read/27598823/further-evidence-that-de-novo-missense-and-truncating-variants-in-zbtb18-cause-intellectual-disability-with-variable-features
#1
J S Cohen, S Srivastava, K D Farwell Hagman, D N Shinde, R Huether, D Darcy, R Wallerstein, G Houge, S Berland, K G Monaghan, A Poretti, A L Wilson, W K Chung, A Fatemi
Identification of rare genetic variants in patients with intellectual disability (ID) has been greatly accelerated by advances in next generation sequencing technologies. However, due to small numbers of patients, the complete phenotypic spectrum associated with pathogenic variants in single genes is still emerging. Among these genes is ZBTB18 (ZNF238), which is deleted in patients with 1q43q44 microdeletions who typically present with ID, microcephaly, corpus callosum (CC) abnormalities, and seizures. Here we provide additional evidence for haploinsufficiency or dysfunction of the ZBTB18 gene as the cause of ID in five unrelated patients with variable syndromic features who underwent whole exome sequencing revealing separate de novo pathogenic or likely pathogenic variants in ZBTB18 (two missense alterations and three truncating alterations)...
September 6, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27389196/a-comparison-of-sample-collection-methods-for-quantifying-cell-free-fetal-neurodevelopment-transcripts-in-amniotic-fluid
#2
Lisa Hui, Stephen Tong, Tu'Uhevaha J Kaitu'u-Lino, Natalie J Hannan
BACKGROUND: Cell-free RNA (cfRNA) transcripts known to be expressed by the fetal brain are detectable by quantitative reverse transcription PCR (RT-qPCR) in amniotic fluid and represent potential biomarkers of neurodevelopment. The aim of this study was to compare the cfRNA yields from amniotic fluid (AF) collected in a commercial RNA stabilization product with the traditional method of freezing alone. FINDINGS: Thirteen women undergoing elective Cesarean birth at term without labor had whole AF collected at the time of uterine incision, prior to membrane rupture...
2016: BMC Research Notes
https://www.readbyqxmd.com/read/24193349/a-de-novo-non-sense-mutation-in-zbtb18-in-a-patient-with-features-of-the-1q43q44-microdeletion-syndrome
#3
Sonja A de Munnik, Sixto García-Miñaúr, Alexander Hoischen, Bregje W van Bon, Kym M Boycott, Jeroen Schoots, Lies H Hoefsloot, Nine V A M Knoers, Ernie M H F Bongers, Han G Brunner
The phenotype of patients with a chromosome 1q43q44 microdeletion (OMIM; 612337) is characterized by intellectual disability with no or very limited speech, microcephaly, growth retardation, a recognizable facial phenotype, seizures, and agenesis of the corpus callosum. Comparison of patients with different microdeletions has previously identified ZBTB18 (ZNF238) as a candidate gene for the 1q43q44 microdeletion syndrome. Mutations in this gene have not yet been described. We performed exome sequencing in a patient with features of the 1q43q44 microdeletion syndrome that included short stature, microcephaly, global developmental delay, pronounced speech delay, and dysmorphic facial features...
June 2014: European Journal of Human Genetics: EJHG
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