Clinical and genetic characteristics of 2 patients from Russia with autosomal-recessive microcephaly type 2, due to mutations of the WDR62 gene (OMIM: 604317)

Abstract

The article describes the clinical and genetic characteristics of 2 patients from Russia with autosomal recessive primary microcephaly type 2, caused by previously described and newly identified mutations in the WDR62 gene. The data obtained the support the hypothesis that there are no clear correlations between the type and location of the mutation and the severity of clinical manifestations of the disease. There is discussed the possible influence of a mutation in the WDR62 gene on the occurrence of a fibrillar astrocytoma.

Keywords

• первичная микроцефалия
• магнитно-резонансная томография головного мозга
• пороки головного мозга
• ген wdr62
• клинический полиморфизм