Novel MNX1 mutations and genotype-phenotype analysis of patients with Currarino syndrome.

ABSTRACT:

Background

Currarino syndrome (CS) is a specific complex of congenital caudal anomalies, including anorectal malformations, presacral mass and sacral anomalies. Mutations in the MNX1 gene are closely related to CS and occur in almost all familial cases and less than half of sporadic patients. We investigated the spectrum of MNX1 pathogenic variants and associated clinical features in Chinese patients with CS.

Results

Seventeen index patients from 16 families were recruited from 2015 to 2018. All patients were diagnosed with CS and treated at the Capital Institute of Pediatrics Affiliated Children's Hospital. Genetic testing was applied to identify mutations in CS patients and their relatives by whole-exome sequencing and Sanger sequencing. Functional verification was perform

SUBMITTER: Han L 

PROVIDER: S-EPMC7310025 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature