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

D M Guseva,E L Dadali

doi:10.17650/2222-8721-2020-10-3-74-79

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.

Highlights

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

Summary

Introduction

Clinical and genetic characteristics of 2 patients from Russia with autosomal-recessive microcephaly type 2, due to mutations of the WDR62 gene (OMIM: 604317) D. Продемонстрирован полиморфизм клинических проявлений МЦ 2‐го типа, однако корреляции с локализацией мутаций в гене не выявлено. Целью работы является описание клинико-генетических характеристик 2 российских больных с аллельными вариантами МЦ 2‐го типа, обусловленной мутациями в гене WDR62. При МРТ головного мозга, проведенной в этом возрасте, регистрировалась умеренная дисгирия сулькарного паттерна больших полушарий с элементами пахигирии, гипогенезии мозолистого тела и кисты пинеальной области, а также обнаружены признаки рецидива опухоли

Results

Conclusion