Prenatal Diagnosis of Achondrogenesis Type 1B Caused by SLC26A2 Gene Variants: A Case Report
收藏DataCite Commons2026-04-30 更新2026-05-05 收录
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资源简介：
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.
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创建时间：
2026-04-30
