Update on an Asian Indian Family With Apparent Autosomal Recessive Charcot-Marie-Tooth Disease Caused by a Mutation in the HSPB1 Gene
Bibliographic record
Abstract
Background: We described an Asian Indian family with a genetic neuropathy previously in the Journal of Neurology Research, 2012. In that publication, we speculated that a deletion mutation in the PRX gene may have contributed to the development of the neuropathy. In this family, there is significant phenotypic variability which created difficulties establishing the mode of transmission which appeared to be autosomal recessive. We now present our updated analysis with additional clinical and genetic data. Methods: We obtained clinical and phenotype data on additional members of this family. We performed whole exome sequencing on the index patient and targeted genotyping of other members of the family. Results: Our updated analysis establishes the pattern of inheritance of this neuropathy as autosomal dominant and caused by a mutation in the HSPB1 gene, R140G. The R140G mutation has been previously reported in a number of unrelated families originating from Gujarat, the same Indian state as the subjects of this study. Conclusions: The collective genetic analysis of this mutation in the Gujarati families suggests the presence of a founder effect of the R140G mutation in this population. Our investigation of this family demonstrates the capacity of next generation sequencing in facilitating the ability to make a specific genetic diagnosis. J Neurol Res. 2019;9(4-5):60-64 doi: https://doi.org/10.14740/jnr547
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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.001 | 0.000 |
| Research integrity | 0.000 | 0.002 |
| Insufficient payload (model declined to judge) | 0.000 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one teacher head, not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".