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Updated: Feb 7, 2026
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A Simple Composite Phenotype Scoring System for Evaluating Mouse Models of Cerebellar Ataxia
Published on: May 21, 2010
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A novel SLC9A1 mutation causes cerebellar ataxia
Kazuhiro Iwama1,2, Hitoshi Osaka3, Takahiro Ikeda3
1Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
Journal of Human Genetics
|July 19, 2018
Summary
A novel mutation in the SLC9A1 gene causes cerebellar ataxia in siblings. This finding expands the known clinical features of SLC9A1 mutations, suggesting deafness may not be essential for diagnosis.
Area of Science:
- Genetics
- Neuroscience
- Molecular Biology
Background:
- The Na+/H+ exchanger isoform one (NHE1), encoded by SLC9A1, is crucial for intracellular pH homeostasis.
- NHE1 mutations in mice and humans have been linked to neurological disorders.
Observation:
- Whole exome sequencing identified a novel homozygous SLC9A1 truncating mutation (c.862del) in two siblings.
- Affected siblings presented with cerebellar ataxia.
Findings:
- The identified mutation expands the known phenotypic spectrum of SLC9A1-associated disorders.
- Unlike some previous cases, sensorineural hearing loss and neuromuscular phenotypes were absent in these patients.
Implications:
- Deafness may not be a mandatory clinical feature of SLC9A1 mutations.
- This study refines the understanding of genotype-phenotype correlations for SLC9A1-related conditions.
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