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Updates to a handful of descriptions, the big one was relating DM1 to autism and the mechanism associated.
fixed some typos I saw from previous changes; Updates to a handful of descriptions, the big one was relating DM1 to autism and the mechanism associated.
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hdashnow
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May 9, 2025
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This is great! I have a few suggested changes.
data/STRchive-loci.json
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| "omim": [], | ||
| "prevalence": null, | ||
| "prevalence_details": "Found in individuals of European ancestry [@pmid:38876750].", | ||
| "prevalence_details": "Found in individuals of European, Japanese, and Chinese ancestry [@pmid:38876750].", |
| "novel": "ref", | ||
| "mechanism": "GoF", | ||
| "mechanism_detail": "RNA gain-of-function: RNA gelation leading to misregulation of alternative splicing [@pmid:36169768]. Expanded-repeat RNA sequesters the muscleblind-like (MBNL) family of RNA-binding proteins as part of the disruption of pre-mRNA processing, contributing to cardiac phenotypes [@pmid:39932794].", | ||
| "mechanism_detail": "RNA gain-of-function: RNA gelation leading to misregulation of alternative splicing [@pmid:36169768]. Expanded-repeat RNA sequesters the muscleblind-like (MBNL) family of RNA-binding proteins as part of the disruption of pre-mRNA processing, contributing to cardiac phenotypes [@pmid:39932794]. Loss of MBNL proteins has been linked to mis-splicing of Autism spectrum-risk genes such as SCN2A, ANK2, and SHANK2, possibly leading to Autism-related traits [@pmid:40259070]", |
data/STRchive-loci.json
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| "webstr_hg19": ["Expansion_DM1/DMPK"], | ||
| "tr_atlas": ["TR156684"], | ||
| "disease_description": "Steinert disease, also known as myotonic dystrophy type 1, is a muscle disease characterized by myotonia and by multiorgan damage that combines various degrees of muscle weakness, arrhythmia and/or cardiac conduction disorders, cataract, endocrine damage, sleep disorders and baldness [@mondo:0008056].", | ||
| "disease_description": "Steinert disease, also known as myotonic dystrophy type 1, is a muscle disease characterized by myotonia and by multiorgan damage that combines various degrees of muscle weakness, arrhythmia and/or cardiac conduction disorders, cataract, endocrine damage, sleep disorders and baldness [@mondo:0008056]. It has also been linked to Autism Spectrum Disorder and related traits [@pmid:29361396; @pmid:8810716; @pmid:27695335; @pmid:29871899; @pmid:37209486], the presence of which may be associated with age of onset of DM1 [@pmid:40259070].", |
data/STRchive-loci.json
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| "omim": ["620174"], | ||
| "prevalence": null, | ||
| "prevalence_details": "Intermediate expansions 1-2% of population, but non-GAA-pure without relation to ataxia [@genereviews:NBK599589]. Found in multiple ethnicities [@pmid:38876750]; diagnosed patients in America, Brazil, Japan, Germany, Spain, Canada, France, Austria and Australia [@genereviews:NBK599589].", | ||
| "prevalence_details": "Intermediate expansions 1-2% of population, but non-GAA-pure without relation to ataxia [@genereviews:NBK599589]. Found in multiple ethnicities [@pmid:38876750]; diagnosed patients in America, Brazil, Japan, Germany, Spain, Canada, France, Austria, Australia, and Italy [@genereviews:NBK599589; @pmid:38886208].", |
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I think this citation needs to be added for the Australian cohort:
@pmid:37267898
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Australian cohort was already there, the only edit I made there was putting a comma and moving the "and" after. I cannot view that article you've linked but if it details the cohort, I'll add it
| "omim": ["606438"], | ||
| "prevalence": null, | ||
| "prevalence_details": "<1/1,000,000 [@orphanet:98934]. Largely in individuals of African ancestry [@genereviews:NBK1529].", | ||
| "prevalence_details": "<1/1,000,000 [@orphanet:98934]. Largely in individuals of African ancestry [@genereviews:NBK1529]. JPH3 is a possible founder mutation in individuals of African ancestry [@pmid:40187026].", |
data/STRchive-loci.json
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| "age_onset_min": 15, | ||
| "age_onset": "Typical: 37- 56; Range: 12 - 60 [@pmid:39666847; @pmid:38973251].", | ||
| "age_onset_min": 12, | ||
| "age_onset_max": 60, |
Rewrote per suggestions
hdashnow
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May 10, 2025
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May 12, 2025
## Description Updates to a handful of descriptions, the big one was relating DM1 to autism and the mechanism associated. Summarize the changes Fixes: 7 **Link to any relevant issues and/or discussions** 0 Major Changes 7 Minor Changes - Japanese and Chinese cohorts added to OPDM - Noted mechanism for ASD mimicing splicing in DM1 - Noted association between DM1 and ASD/related traits #178 - Added Italian cohort for SCA27B - Fixed typo in HTT: associated vs assocated - Noted JPH3 founder mutation in African ancestry - Lowest age onset of SCA4 changed to 12 from 15 ## Checklist - [ x ] All changes are well summarized - [ x ] Check all tests pass - [ x ] Check that the website preview looks good - [ ] Update the STRchive version in `CITATION.cff`, format X.Y.Z. If any major changes, increment Y. If only minor changes, increment Z. If the breaking change (rare), increment X. - [ x ] Ask someone to review this PR
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Description
Updates to a handful of descriptions, the big one was relating DM1 to autism and the mechanism associated.
Summarize the changes
Fixes: 7 Link to any relevant issues and/or discussions
0 Major Changes
7 Minor Changes
Checklist
CITATION.cff, format X.Y.Z. If any major changes, increment Y. If only minor changes, increment Z. If the breaking change (rare), increment X.