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

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 correla...

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Main Authors:	D. M. Guseva, E. L. Dadali
Format:	Article
Language:	Russian
Published:	ABV-press 2020-12-01
Series:	Nervno-Myšečnye Bolezni
Subjects:	primary microcephaly mri of the brain brain defects wdr62 gene clinical polymorphism
Online Access:	https://nmb.abvpress.ru/jour/article/view/400

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spelling	doaj-760a48b15d544fa1a006b0c0ab45f5b82021-07-29T08:13:29ZrusABV-pressNervno-Myšečnye Bolezni2222-87212413-04432020-12-01103747910.17650/2222-8721-2020-10-3-74-79279Clinical 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. Guseva0E. L. Dadali1Research Centre for Medical Genetics named after academician N.P. BochkovResearch Centre for Medical Genetics named after academician N.P. BochkovThe 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.https://nmb.abvpress.ru/jour/article/view/400primary microcephalymri of the brainbrain defectswdr62 geneclinical polymorphism
collection	DOAJ
language	Russian
format	Article
sources	DOAJ
author	D. M. Guseva E. L. Dadali
spellingShingle	D. M. Guseva E. L. Dadali Clinical and genetic characteristics of 2 patients from Russia with autosomal-recessive microcephaly type 2, due to mutations of the WDR62 gene (OMIM: 604317) Nervno-Myšečnye Bolezni primary microcephaly mri of the brain brain defects wdr62 gene clinical polymorphism
author_facet	D. M. Guseva E. L. Dadali
author_sort	D. M. Guseva
title	Clinical and genetic characteristics of 2 patients from Russia with autosomal-recessive microcephaly type 2, due to mutations of the WDR62 gene (OMIM: 604317)
title_short	Clinical and genetic characteristics of 2 patients from Russia with autosomal-recessive microcephaly type 2, due to mutations of the WDR62 gene (OMIM: 604317)
title_full	Clinical and genetic characteristics of 2 patients from Russia with autosomal-recessive microcephaly type 2, due to mutations of the WDR62 gene (OMIM: 604317)
title_fullStr	Clinical and genetic characteristics of 2 patients from Russia with autosomal-recessive microcephaly type 2, due to mutations of the WDR62 gene (OMIM: 604317)
title_full_unstemmed	Clinical and genetic characteristics of 2 patients from Russia with autosomal-recessive microcephaly type 2, due to mutations of the WDR62 gene (OMIM: 604317)
title_sort	clinical and genetic characteristics of 2 patients from russia with autosomal-recessive microcephaly type 2, due to mutations of the wdr62 gene (omim: 604317)
publisher	ABV-press
series	Nervno-Myšečnye Bolezni
issn	2222-8721 2413-0443
publishDate	2020-12-01
description	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.
topic	primary microcephaly mri of the brain brain defects wdr62 gene clinical polymorphism
url	https://nmb.abvpress.ru/jour/article/view/400
work_keys_str_mv	AT dmguseva clinicalandgeneticcharacteristicsof2patientsfromrussiawithautosomalrecessivemicrocephalytype2duetomutationsofthewdr62geneomim604317 AT eldadali clinicalandgeneticcharacteristicsof2patientsfromrussiawithautosomalrecessivemicrocephalytype2duetomutationsofthewdr62geneomim604317
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Clinical and genetic characteristics of 2 patients from Russia with autosomal-recessive microcephaly type 2, due to mutations of the WDR62 gene (OMIM: 604317)

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