Identification of a novel EVC variant in a Han-Chinese family with Ellis-van Creveld syndrome.

ABSTRACT:

Background

Ellis-van Creveld syndrome (EVC), a very rare genetic skeletal dysplasia, is clinically characterized by a tetrad consisting of chondrodystrophy, polydactyly, ectodermal dysplasia, and cardiac anomalies. The aim of this study was to identify the genetic defect for EVC in a five-generation consanguineous Han-Chinese pedigree.

Methods

A five-generation, 12-member Han-Chinese pedigree was enrolled in this study. Exome sequencing was applied in the proband to screen potential genetic variant(s), and then Sanger sequencing was used to identify the variant in family members and 200 unrelated ethnicity-matched controls.

Results

A novel homozygous variant, c.2014C>T, p.(Q672*), in the EvC ciliary complex subunit 1 gene (EVC), was detected in the patient, which was

SUBMITTER: Huang X 

PROVIDER: S-EPMC6732296 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature