Molecular Diagnosis and Prenatal Phenotype Analysis of Eight Fetuses With Ciliopathies.

ABSTRACT: Human ciliopathies are hereditary conditions caused by variants in ciliary-associated genes. Ciliopathies are often characterized by multiple system defects. However, it is not easy to make a definite diagnosis in the prenatal period only based on the imageology. In this report, eight new prenatal cases from five unrelated families diagnosed with ciliopathies were systematically examined. The clinical manifestations of these fetuses showed such prenatal diagnostic features as occipital encephalocele, and polydactyly and polycystic kidneys. Situs inversus caused by CPLANE1 variant was first reported. In Family 1 and Family 3, homozygous variants of CPLANE1 and NPHP4 caused by consanguineous marriage and uniparental disomy were detected by whole-exome sequencing,

SUBMITTER: Liu Y 

PROVIDER: S-EPMC8523853 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature