|
Mental Retardation, X-Linked, Syndromic, Christianson Type
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Of the genes in that region, we propose that SLC9A6 is the most likely to play an important role as mutations in this gene lead to Christianson syndrome, in which patients may have microcephaly and weight loss.
|
31583675 |
2020 |
|
Mental Retardation, X-Linked, Syndromic, Christianson Type
|
0.800 |
Biomarker
|
disease |
BEFREE |
Collectively, these findings expand our understanding of the genetic diversity of CS and further elucidate a critical role for SLC9A6/NHE6 in fine-tuning recycling endosomal pH and cargo trafficking, processes crucial for the maintenance of neuronal polarity and mature synaptic structures.
|
30296617 |
2019 |
|
Mental Retardation, X-Linked, Syndromic, Christianson Type
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A Christianson syndrome-linked deletion mutation (Δ287ES288) in SLC9A6 impairs hippocampal neuronal plasticity.
|
31175985 |
2019 |
|
Mental Retardation, X-Linked, Syndromic, Christianson Type
|
0.800 |
Biomarker
|
disease |
BEFREE |
Our findings establish the Slc9a6 KO mouse as a relevant tool for studying the sensory deficits in CS, and highlight selective vulnerabilities in relevant cell populations that may contribute to this phenotype.
|
29772390 |
2019 |
|
Mental Retardation, X-Linked, Syndromic, Christianson Type
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Christianson syndrome (CS) is an X-linked disorder resulting from loss-of-function mutations in <i>SLC9A6</i>, which encodes the endosomal Na<sup>+</sup>/H<sup>+</sup> exchanger 6 (NHE6).
|
29349289 |
2018 |
|
Mental Retardation, X-Linked, Syndromic, Christianson Type
|
0.800 |
Biomarker
|
disease |
BEFREE |
Loss-of-function mutations in human endosomal Na<sup>+</sup>(K<sup>+</sup>)/H<sup>+</sup> exchangers (NHEs) NHE6 and NHE9 are implicated in neurological disorders including Christianson syndrome, autism, and attention deficit and hyperactivity disorder.
|
29212874 |
2018 |
|
Mental Retardation, X-Linked, Syndromic, Christianson Type
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
These observations have prognostic implications for patients who have Christianson syndrome with loss of function mutations in NHE6 and exhibit prominent glial pathology and progressive hallmarks of neurodegeneration.
|
29946028 |
2018 |
|
Mental Retardation, X-Linked, Syndromic, Christianson Type
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A Christianson syndrome-linked deletion mutation (∆(287)ES(288)) in SLC9A6 disrupts recycling endosomal function and elicits neurodegeneration and cell death.
|
27590723 |
2016 |
|
Mental Retardation, X-Linked, Syndromic, Christianson Type
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in SLC9A6 have been reported in X-linked Christianson syndrome associating severe to profound intellectual deficiency and an Angelman-like phenotype with microcephaly, absent speech, ataxia with progressive cerebellar atrophy, ophthalmoplegia, epilepsy, and neurological regression.
|
27256868 |
2016 |
|
Mental Retardation, X-Linked, Syndromic, Christianson Type
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in SLC9A6 have been reported in X-linked Christianson syndrome associating severe to profound intellectual deficiency and an Angelman-like phenotype with microcephaly, absent speech, ataxia with progressive cerebellar atrophy, ophthalmoplegia, epilepsy, and neurological regression.
|
27256868 |
2016 |
|
Mental Retardation, X-Linked, Syndromic, Christianson Type
|
0.800 |
Biomarker
|
disease |
BEFREE |
Among these are classic disorders such as Angelman syndrome and MECP2-related disorder (formerly Rett syndrome), as well as more recently described clinical entities associated with mutations in CASK, CDKL5, CREBBP, and EP300 (Rubinstein-Taybi syndrome), FOXG1, SLC9A6 (Christianson syndrome), and TCF4 (Pitt-Hopkins syndrome).
|
24839169 |
2014 |
|
Mental Retardation, X-Linked, Syndromic, Christianson Type
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome.
|
25044251 |
2014 |
|
Mental Retardation, X-Linked, Syndromic, Christianson Type
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome.
|
25044251 |
2014 |
|
Mental Retardation, X-Linked, Syndromic, Christianson Type
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In a 7-year-old boy with characteristic clinical and neuroimaging features of Christianson syndrome and epileptic encephalopathy with continuous spikes and waves during sleep, we identified a novel splice site mutation (IVS10-1G>A) in SLC9A6.
|
24630051 |
2014 |
|
Mental Retardation, X-Linked, Syndromic, Christianson Type
|
0.800 |
Biomarker
|
disease |
BEFREE |
In a child with the phenotype of AS, CA and/or CbC-hyperintensity are rather specific for CS and should prioritize sequencing of SLC9A6.
|
24285247 |
2014 |
|
Mental Retardation, X-Linked, Syndromic, Christianson Type
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Novel mutation in SLC9A6 gene in a patient with Christianson syndrome and retinitis pigmentosum.
|
22541666 |
2013 |
|
Mental Retardation, X-Linked, Syndromic, Christianson Type
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Christianson syndrome protein NHE6 modulates TrkB endosomal signaling required for neuronal circuit development.
|
24035762 |
2013 |
|
Mental Retardation, X-Linked, Syndromic, Christianson Type
|
0.800 |
Biomarker
|
disease |
CLINGEN |
X-linked Angelman-like syndrome caused by Slc9a6 knockout in mice exhibits evidence of endosomal-lysosomal dysfunction.
|
21964919 |
2011 |
|
Mental Retardation, X-Linked, Syndromic, Christianson Type
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This patient broadens the spectrum of SLC9A6 mutations and contributes to the clinical delineation of Christianson syndrome.
|
21932316 |
2011 |
|
Mental Retardation, X-Linked, Syndromic, Christianson Type
|
0.800 |
Biomarker
|
disease |
CLINGEN |
A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition.
|
20395263 |
2010 |
|
Mental Retardation, X-Linked, Syndromic, Christianson Type
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome.
|
18342287 |
2008 |
|
Mental Retardation, X-Linked, Syndromic, Christianson Type
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome.
|
18342287 |
2008 |
|
Mental Retardation, X-Linked, Syndromic, Christianson Type
|
0.800 |
Biomarker
|
disease |
CLINGEN |
SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome.
|
18342287 |
2008 |
|
Mental Retardation, X-Linked, Syndromic, Christianson Type
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome.
|
18342287 |
2008 |
|
Mental Retardation, X-Linked, Syndromic, Christianson Type
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|