Department of Obstetrics and Gynecology, Key Laboratory for Major Obstetric Diseases of Guangdong Province, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, 510150, Guangdong, China.
Key Laboratory of Reproduction and Genetics of Guangdong Higher Education Institutes, Guangzhou, 510150, China.
BMC Med Genomics. 2022 Jan 29;15(1):16. doi: 10.1186/s12920-022-01161-8.
Roberts syndrome (RBS) is a rare autosomal recessive disorder caused by variations in the ESCO2 gene; however, prenatal diagnosis of RBS has never been reported in Chinese families. Additionally, fetal-specific phenotypic characteristics associated with ESCO2 variants have not been reported.
A fetus in a healthy, nonconsanguineous Chinese family with multiple serious congenital malformations was diagnosed prenatally. Two consecutive fetuses in this family presented with tetraphocomelia, growth restriction, cleft lip and palate bilaterally, and other abnormalities. The main phenotypic characteristics of this case were strongly suspected to be associated with RBS. Finally, whole exome sequence analysis revealed the insertion of a homozygous base pair in exon 6 of the ESCO2 gene (NM_001017420.3, c.1111insA, NP_001017420.1, p.Thr371fs). Both of the couples were heterozygous carriers for this variant.
We are the first to report a prenatal case of RBS diagnosed in a Chinese family. Here, we have confirmed that the rare variant is a definite pathogenic variant, and we provide detailed phenotypic characteristics for the prenatal diagnosis of RBS due to this causative variant.
罗伯茨综合征（RBS）是一种由 ESCO2 基因突变引起的罕见常染色体隐性遗传病；然而，中国家庭的 RBS 产前诊断从未有过报道。此外，与 ESCO2 变异相关的胎儿特异性表型特征也尚未报道。
一名来自健康、非近亲婚配的中国家庭的胎儿被产前诊断出患有多种严重先天畸形。这个家庭的连续两胎均出现了四肢短小、生长受限、双侧唇腭裂和其他异常。该病例的主要表型特征强烈怀疑与 RBS 有关。最后，全外显子组序列分析显示 ESCO2 基因第 6 外显子的纯合碱基对插入（NM_001017420.3，c.1111insA，NP_001017420.1，p.Thr371fs）。这对夫妇均为该变异的杂合携带者。
我们首次报道了一例中国家庭的 RBS 产前诊断病例。在这里，我们已经证实该罕见变异是一个明确的致病变异，并为该致病变异导致的 RBS 产前诊断提供了详细的表型特征。
