A newly recognized multiple malformation syndrome with caudal regression associated with a biallelic c.402G>A variant in TBX4.,European Journal of Human Genetics

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A newly recognized multiple malformation syndrome with caudal regression associated with a biallelic c.402G>A variant in TBX4.
European Journal of Human Genetics ( IF 3.7 ) Pub Date : 2020-01-21 , DOI: 10.1038/s41431-020-0572-5
Prajnya Ranganath _{1,

2} , Sreeja Perala _{1,

2} , Lekshmi Nair _{1,

2} , Pramod Kumar Pamu ₃ , Aparna Shankar ₄ , Sakthivel Murugan ₅ , Ashwin Dalal ₂

Affiliation

The T-box4 (TBX4) gene (OMIM *601719) belongs to the T-box family of transcription regulators that share a conserved homology domain and are expressed at specific sites during various stages of embryonic development. Tbx4 has been found to be a crucial transcriptional regulator in embryonic hindlimb development in animal models. Monoallelic variants in the TBX4 gene are reported to be associated with skeletal defects of the pelvis and lower limbs. We report here a fetus with a novel multiple malformation syndrome associated with sacrococcygeal agenesis, bilateral lower limb aplasia, hypoplastic left heart, bilateral lung hypoplasia, hydroureteronephrosis, and nonimmune fetal hydrops, found to have a homozygous nonsense variant in the TBX4 gene. We propose that biallelic variants in the TBX4 gene are associated with a severe syndromic phenotype of sacrococcygeal agenesis and lower limb reduction defects.

中文翻译：

TBX4的双等位基因c.402G> A变异伴有尾退步的新认识到的多畸形综合症。

T-box4（TBX4）基因（OMIM * 601719）属于转录调节剂的T-box家族，它们共有保守的同源结构域，并在胚胎发育的各个阶段在特定位点表达。已经发现Tbx4是动物模型胚胎后肢发育中的关键转录调节因子。据报道，TBX4基因的单等位基因变异与骨盆和下肢的骨骼缺陷有关。我们在这里报告了一种胎儿，该胎儿患有与sa尾骨发育不全，双侧下肢发育不全，左心发育不全，双侧肺发育不全，输尿管肾积水和非免疫性胎儿积液相关的新型多形畸形综合征，发现其在TBX4基因中具有纯合性无意义变异。

更新日期：2020-01-22

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