Data · dataset · 2026
Prenatal Diagnosis of Achondrogenesis Type 1B Caused by SLC26A2 Gene Variants: A Case Report
Listed in ScienceDB
This article reports a case of achondrogenesis type 1B diagnosed in a fetus.
Description
Prenatal ultrasound at 12+⁴ weeks showed shortened limbs, generalized skin edema, and nuchal cystic hygroma. Whole-exome sequencing revealed two novel compound heterozygous SLC26A2 variants (c.1661T>C:p.L554P and c.586del:p.M196Wfs*9), inherited from each parent.
The diagnosis was confirmed clinically. After genetic counseling, pregnancy termination was elected. Literature review indicates that foot deformities are common prenatal features in DTD/rMED.
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The c.484G>T and c.1020_1022delTGT variants are frequent in the Chinese population, suggesting potential mutation hotspots.
Links
Where it is published
- DOI doi.org/10.57760/sciencedb.zhwcyxzz.01133 ↗
DOI / persistent id · from scidb cn
Catalogue records · 1
- OAI-PMH record scidb.cn/oai?verb=GetRecord&metadataPrefix=oai_dc&identifier=10.57760%2… ↗
metadata API · from scidb cn
Topics
- From keywords
- Earth & Environmental Science · Engineering · Humanities · Life Sciences · Social Science
- Inferred from text
- Sequencing 75%
Provenance · 1 source records, 11 field assertions
| Source | Key | Last seen | Raw |
|---|---|---|---|
| ScienceDB | 10.57760/sciencedb.zhwcyxzz.01133 | 12 d ago | JSON v1 |
| Field | Assertion | Extractor | Evidence |
|---|---|---|---|
| access_level | source · scidb cn | connector:scidb_cn@1.0.0 | |
| concepts[field].local:field:earth-environmental | mapping · scidb cn | connector:scidb_cn@1.0.0 | |
| concepts[field].local:field:engineering | mapping · scidb cn | connector:scidb_cn@1.0.0 | |
| concepts[field].local:field:humanities | mapping · scidb cn | connector:scidb_cn@1.0.0 | |
| concepts[field].local:field:life-sciences | mapping · scidb cn | connector:scidb_cn@1.0.0 | |
| concepts[field].local:field:social-science | mapping · scidb cn | connector:scidb_cn@1.0.0 | |
| concepts[modality].local:modality:sequencing | enrichment · scidb cn | keyword-concept-rules@1.0.0 | title+description (75%) |
| description | source · scidb cn | connector:scidb_cn@1.0.0 | /metadata/dc/description |
| license | source · scidb cn | connector:scidb_cn@1.0.0 | /metadata/dc/rights |
| publication_date | source · scidb cn | connector:scidb_cn@1.0.0 | |
| title | source · scidb cn | connector:scidb_cn@1.0.0 | /metadata/dc/title |