[Identification of a novel SOD1 variant in a Chinese patient with amyotrophic lateral sclerosis].

Objective: To explore the genetic basis for a Chinese patient with amyotrophic lateral sclerosis (ALS).

Methods: Peripheral blood samples were collected from the patient and his parents for the extraction of genomic DNA. Genetic variant was identified by whole exome sequencing.

[Analysis of gene variant in a Chinese pedigree with preaxial polydactyly].

Objective: To analyze the pathogenic variant of preaxial polydactyly in a Chinese Han pedigree and identify the cause of polydactyly.

Methods: The peripheral blood DNA of the proband and her parents was extracted. The polydactyly-related genes were detected by trio whole exome sequencing, and the suspected pathogenic gene was screened out.