Clinical and genetic analysis of a Chinese family with Walker-Warburg syndrome / 中华实用儿科临床杂志

ABSTRACT

Objective To analyze the clinical,molecular and genetic features of a Chinese family with WalkerWarburg syndrome(WWS).Methods The clinical data of the proband and his family members were collected.Genomic DNAs from the patient and his parents were extracted with standard procedures from the peripheral blood leukocytes.Polymerase chain reaction and DNA direct sequencing were employed to analyze all of the 20 exons of the POMT1 gene to determine the mutation,and the relationship between genotype and phenotype was analyzed.Results The proband presented with delayed psychomotor development,muscle hypotonia and early joint contractures,his serum creatine kinase was elevated moderately and the brain magnetic resonance imaging (MRI) displayed brain structural malformations,cerebellar cyst,bilateral dilatation of the lateral ventricle,cerebellum and brainstem dysplasia.Further genetic testing detected a compound heterozygous mutation of c.313C ＞ T,p.Arg105Cys inherited from his father,a frameshift mutation c.2208delG,p.Trp736X inherited from his mother,both of which were known as pathogenic mutations.Conclusions According to the study,the proband carried compound heterozygous mutation of POMT1 gene,and his parents were heterozygous carriers,which is consistent with autosomal recessive inheritance.The child is definitely diagnosed as WWS.Genetic counseling and prenatal diagnosis are available for this family.