[Gene mutation analysis of a collodion baby].

Objective: To determine the mutations pattern of the genes of a collodion baby.

Methods: Collodion baby is a genetic heterogeneous disease caused by mutations of several genes. Since the most common mutations were observed in TGM1 gene, this gene was chosen for mutation screening.

A novel GPR143 duplication mutation in a Chinese family with X-linked congenital nystagmus.

Purpose: To elucidate the molecular genetic defect of X-linked congenital nystagmus in a Chinese family.

Methods: Genomic DNA was prepared from peripheral blood. We used allele-sharing analysis to identify the possible locus harboring the disease-causing gene.