ABSTRACT
Objective To analyze the pathogenic gene types and phenotypic characteristics of 6 albinism families.Methods A retrospective series of case studies.Six probands of albinism and 20 family members were recruited for this study,5 probands with clinical manifestations of oculocutaneous albinism (OCA) and 1 proband of ocular albinism (OA).Genomic DNA was extracted from peripheral venous blood which was collected from 6 probands and 20 family members.Genetic variations were screened by whole-exome sequencing or Sanger sequencing and then analyzed the relationship between genotypes and phenotypes.Results Genetic sequencing identified 6 potential pathogenic variants in 4 probands,including 2 compound heterozygous mutations in the 2 genes [TYR (c.1037-7T＞A,c.925_c.926insC),OCA2 (c.2359G＞A,c.587T＞C)] associated with OCA1 and OCA2,and 2 hemizygous mutations in the GPR143[GPR143 (c.11C ＞ G),GPR 143 (c.333 G ＞ A)] as sociated with OA 1,respectively.In which,5 were novel mutations and confirmed by Sanger sequencing.One case was accorded with OCA in clinical phenotype,but genetic diagnosis was OA1,the others were agreement between clinical diagnosis and genetic diagnosis.Conclusion There are 4 families with mutations in 6 families,representative of 3 type of albinism (OCA1,OCA2,OA1).
ABSTRACT
Congenital idiopathic nystagmus (CIN) is characterized by monoocular or biocular involuntary,rhythmical,repeated oscillations.CIN is often referred to congenital 'motor' nystagmus since nystagmus occurs in the absence of a clinically demonstrable defect in the visual sensory system.CIN is genetically heterogeneous,and patterns of its inheritance have been well-known to include autosomal dominant.autosomal recessive and X-linked patterns.In recent years, many different genetic loci for CIN have been mapped,and researchers have found some candidate causing-disease genes.This review focuses on the recent advances of gene mapping and candidate gene analysis for molecular research of CIN.