Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Center, Cochin, India.
Department of Perinatology, Amrita Institute of Medical Sciences and Research Center, Cochin, India.
Am J Med Genet A. 2021 Feb;185(2):620-624. doi: 10.1002/ajmg.a.61971. Epub 2020 Nov 11.
Cenani Lenz syndrome is a rare autosomal recessive disorder associated with variable degree of limb malformations, dysmorphism, and renal agenesis. It is caused due to pathogenic variants in the LRP4 gene, which plays an important role in limb and renal development. Mutations in the APC gene have also been occasionally associated with CLS. The phenotypic spectrum ranges from mild to very severe perinatal lethal type depending on the type of variant. We report a pathogenic variant, c.2710 del T (p.Trp904GlyfsTer5) in theLRP4 gene, in a fetus with lethal Cenani Lenz syndrome with antenatal presentation of tetraphocomelia and symmetrical involvement of hands and feet.
Cenani Lenz 综合征是一种罕见的常染色体隐性遗传病，与不同程度的肢体畸形、发育异常和肾发育不全有关。它是由 LRP4 基因突变引起的，LRP4 基因在肢体和肾脏发育中起重要作用。APC 基因突变也偶尔与 CLS 相关。表型谱范围从轻度到非常严重的围产期致死型，具体取决于变异类型。我们报告了一例致病性变异，LRP4 基因 c.2710delT（p.Trp904GlyfsTer5），在一例具有致死性 Cenani Lenz 综合征的胎儿中，产前表现为四肢短缺和手足对称性受累。
