2026-10-14T19:47:53Z https://www.scidb.cn/oai

10.57760/sciencedb.zhwcyxzz.01133 2026-04-30T11:02:36Z

2026-04-30 Prenatal Diagnosis of Achondrogenesis Type 1B Caused by SLC26A2 Gene Variants: A Case Report doi:10.57760/sciencedb.zhwcyxzz.01133 en This article reports a case of achondrogenesis type 1B diagnosed in a fetus. 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. The c.484G>T and c.1020_1022delTGT variants are frequent in the Chinese population, suggesting potential mutation hotspots. SLC26A2; achondroplasia type 1B; gene mutation; phenotype-genotype; prenatal Fangying.Cui Weifang.Tian Yuanhang.Zhu Yuexia.Lv Jia.Che Lu.Wang Yuan.Tian Xiaolu.Zhu Shihong.Cui Ling.Liu EMBARGO https://creativecommons.org/publicdomain/zero/1.0/ dataset Science Data Bank