Using targeted next generation sequencing, we have identified a splicing mutation (c.526-9_526-5del) in the SLC9A6 gene in a 9-year-old boy with mild intellectual disability (ID), microcephaly, and social interaction disabilities. This intronic microdeletion leads to the skipping of exon 3 ...
Mutations inSLC6A1, encoding γ-aminobutyric acid (GABA) transporter 1 (GAT-1), have been recently associated with a spectrum of epilepsy syndromes, intellectual disability and autism in clinic. However, the pathophysiology of the gene mutations is far from clear. Here we report a novelSLC6A1mis...
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29 March 2016 The Ec-NhaA antiporter switches from antagonistic to synergistic antiport upon a single point mutation Manish Dwivedi1, Shahar Sukenik2, Assaf Friedler2 & Etana Padan1 The Na+, Li+/H+ antiporter of Escherichia coli (Ec-NhaA) maintains pH, Na+ homeostasis in enterobacte...
Xiu-zhen Liu1,2, Ting-ting Wang1,2, Li Cheng1,3, Bo-yu Wang1,2, Xiang Lv1,2, Yue Huang1,3 & De-pei Liu1,2 β-Thalassemia is one of the most common genetic blood diseases and is caused by either point mutations or deletions in the β-globin (HBB) gene. Th...
Background: Christianson Syndrome, a recently identified X-linked neurodevelopmental disorder, is caused by mutations in the human gene SLC9A6 encoding the recycling endosomal alkali cation/proton exchanger NHE6. The patients have pronounced limitations in cognitive ability, motor skills and adaptive ...
Human iPSC lines from a Christianson syndrome patient with NHE6 W523X mutation, a biologically-related control, and CRISPR/Cas9 gene-corrected isogenic controls - ScienceDirectLoss-of-function mutations in Na+/H+exchanger 6 (NHE6) (also termed SLC9A6) cause the X-linked neurogenetic disorder ...
Acquired microcephaly is a characteristic feature in a few well-described disorders, for example Rett syndrome and other neurodevelopmental syndromes caused by mutations in MECP2, CDKL5, FOXG1, SLC9A6, and TCF4.5 Acquired microcephaly has not been documented in association with HECW2 mutation. We...