A rare CNV in the SLC4A10 gene has been identified with autism in AGRE, NIMH and additional cohorts (Sebat et al., 2007). In addition, a rare translocation involving the SLC4A10 gene has been identified with epilepsy and cognitive impairment in a patient (Gurnett et al., 2008). More recently, biallelic variants in the SLC4A10 gene have been found to cause an autosomal recessive neurodevelopmental disorder in which a subset of affected individuals presented with autistic features or stereotypy (Fasham et al., 2023; Maroofian et al., 2024).
Molecular Function
inorganic anion exchanger activity
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Strong association of de novo copy number mutations with autism.
Model Type:
Genetic
Model Genotype:
Homozygous
Mutation:
loxP/Cre mediated deletion of exon 12 of the Slc4a10 gene which leads to a frameshift and a premature termination codon in exon 13.
Allele Type: Targeted (Knock-out)
Strain of Origin: 129/SvJ
Genetic Background: C57B/L6
ES Cell Line: R1
Mutant ES Cell Line: Not Specified
Model Source: Not Specified
Description: Drastically decreased volume of ventricles; no change in apparent diffusion coefficient (adc) value
Exp Paradigm: Mri volumetry for brain ventricle volume, brain water content, and adc maps
Description: Drastically reduced apical microvilli; enlarged lateral intercellular spaces; aberrant placement of chroid plexus near the walls of ventricles
Exp Paradigm: Histological and electron microscopy analysis
Description: Decreased frequency of interictal-like events; decreased rebound increase in network event frequency after washout
Exp Paradigm: In vitro 4-aminopyridine (4-ap) model with field potential recordings from ca3 stratum pyramidale networks
Description: Increased latency until onset of myoclonic jerks; no progression to generalized seizures; decreased mortality due to seizures
Exp Paradigm: Susceptiblity to chemically induced seizures using 40 mg/kg pentylenetetrazole (ptz)
Description: Decreased rate of phi recovery; decreased alkaline overshoot; no change in baseline ph
Exp Paradigm: Bcecf fluorescence imaging of brain slices exposed to acid shift with 20mm propionate in bath solution
Description: Decreased na+ -dependent recovery of phi in the presence of bicarbonate
Exp Paradigm: Recovery of isolated clusters of choroid plexus epithelial cells' ph from acid-loading
Description: Absence of slc4a10 protein in choroid plexus, cortex, olfactory bulb, cerebellum, brainstem, and spinal cord
Exp Paradigm: Slc4a10 protein expression
