Clinical and genetic characteristics of 2 patients from Russia with autosomal-recessive microcephaly type 2, due to mutations of the WDR62 gene (OMIM: 604317)
https://doi.org/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.
About the Authors
D. M. Guseva
Research Centre for Medical Genetics named after academician N.P. Bochkov
Russian Federation
1 Moskvorech’e St., Moscow 115522
Russian Federation
1 Moskvorech’e St., Moscow 115522
E. L. Dadali
Research Centre for Medical Genetics named after academician N.P. Bochkov
Russian Federation
1 Moskvorech’e St., Moscow 115522
Russian Federation
1 Moskvorech’e St., Moscow 115522
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Review
For citations:
Guseva D.M., Dadali E.L. Clinical and genetic characteristics of 2 patients from Russia with autosomal-recessive microcephaly type 2, due to mutations of the WDR62 gene (OMIM: 604317). Neuromuscular Diseases. 2020;10(3):74-79. (In Russ.) https://doi.org/10.17650/2222-8721-2020-10-3-74-79
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