Lethal Cenani Lenz syndrome in two consecutive pregnancies: Further extension of phenotype from Maldives

Autor: Dhanya Yesodharan, Vivek Krishnan, Indu R. Nair, Sheela Nampoothiri, Ashraf U Mannan, Aparna Ganapathy
Rok vydání: 2020
Předmět:
Zdroj: American Journal of Medical Genetics Part A. 185:620-624
ISSN: 1552-4833
1552-4825
DOI: 10.1002/ajmg.a.61971
Popis: 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.
Databáze: OpenAIRE