May Lit Review (#182)

## 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

Author: Macayla-weiner

data/STRchive-loci.json

@@ -44,7 +44,7 @@
   "details": "Characterized in eight unrelated families which were used to establish benign (3-44) and pathogenic (118-694) ranges [@pmid:39068203].",
   "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; @pmid:34047774].",
   "stripy": [],
   "gnomad": [],
   "genereviews": [],
@@ -1511,7 +1511,7 @@
   "typ_age_onset_max": 30.0,
   "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]",
   "source": [],
   "details": "Overview of disease locus through 2024, including largest pathogenic allele of 4,000, described in Rimoldi et al review [@pmid:39643839]. Intermediate alleles (35-49) associated with premutation [@genereviews:NBK1165]. 3%-8% of DM1 expansions contain interrupting variant repeats such as CCG and CGG, associated with later onset and milder phenotype; the variant repeat GCGGCA has also been reported [@pmid:32851192; @doi:10.1016/j.mcp.2024.102005]. In another study, interruptions of the CTG repeat with CCG, GGC, CTC or CAG motifs are estimated to occur in 3-11% of DM1 patients [@pmid:35741732]. Expansions within gene ZNF850 may function as DM1 modifiers [@doi:10.1093/hmg/ddae186].",
   "omim": ["160900"],
@@ -1529,7 +1529,7 @@
   "webstr_hg38": ["5650727"],
   "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 and related traits, especially with individuals with earlier onset [@pmid:40259070; @pmid:29361396; @pmid:8810716; @pmid:27695335; @pmid:29871899; @pmid:37209486].",
   "locus_tags": ["somatic_instability", "anticipation", "maternal_expansion", "length_affects_onset", "length_affects_phenotype", "length_affects_severity", "motif_affects_instability", "motif_affects_onset", "motif_affects_phenotype", "motif_affects_severity"],
   "disease_tags": ["myotonic_dystrophy"],
   "references": ["genereviews:NBK1165", "pmid:38454488", "pmid:36169768", "pmid:39932794", "pmid:39643839", "pmid:32851192", "doi:10.1016/j.mcp.2024.102005", "pmid:35741732", "doi:10.1093/hmg/ddae186", "pmid:29100084", "pmid:31159885", "pmid:35483324", "pmid:1310900", "mondo:0008056"],
@@ -1644,7 +1644,7 @@
   "details": "Higher repeat size is associated with earlier age of onset [@pmid:39263992]. The 250-300 repeats range is linked to incomplete penetrance and >300 repeats with complete penetrance in some studies and resources [@genereviews:NBK599589; @pmid:37399286; @pmid:39227614]. However, our thresholds are taken from suggestions made by Mohren et al upon evaluation of 169 cases and 802 controls; the authors propose lower thresholds based on pathogenic cases of shorter pure repeats [@pmid:39227614]. Additionally, this study suggests that benign motifs may disrupt the formation of secondary structures in DNA/RNA, leading to reduced pathogenicity. The affect of interruptions on penetrance and onset has been shown in patients, with uninterrupted expansions apparently necessary for disease [@pmid:40007153]. Variation in flanking regions appear to correlate with repeat size [@pmid:39227614; @pmid:38937606]. Intermediate alleles make pose as susceptibility factors or be associated with a phenotypic spectrum (multiple system atrophy) [@pmid:39227614; @pmid:39604554].",
   "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; @pmid:37267898].",
   "stripy": ["FGF14"],
   "gnomad": [],
   "genereviews": ["NBK599589"],
@@ -2348,7 +2348,7 @@
   "details": "Intermediate alleles (29-39) may either be premutations or associated with reduced penetrance; the longest pathogenic expansion (40+ motifs) to date is 60 repeats [@genereviews:NBK1529]",
   "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].",
   "stripy": ["JPH3"],
   "gnomad": ["JPH3"],
   "genereviews": ["NBK1529"],
@@ -4384,9 +4384,9 @@
   "pathogenic_max": 74.0,
   "ref_copies": 21.3,
   "motif_len": 3,
-  "age_onset": "Typical: 37- 56; Range: 15 - 60 [@pmid:38035881; @pmid:38973251].",
-  "age_onset_min": 15,
-  "age_onset_max": 60,
+  "age_onset": "Typical: 37- 56; Range: 12 - 65 [@pmid:39666847; @pmid:38973251].",
+  "age_onset_min": 12,
+  "age_onset_max": 65,
   "typ_age_onset_min": 37.0,
   "typ_age_onset_max": 56.0,
   "novel": "ref",