Lamb–Shaffer syndrome, deferred outside not described by SOX5 mutation

Clinical and genetic characteristics of a patient with Lamb–Shaffer syndrome due to the newly discovered heterozygous missense mutation p.1868A>C in the 14 exon of the SOX5 gene are presented in the next generation sequencing of exom. It is shown that, in contrast to the previously described...

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Main Authors:	I. V. Sharkova, E. L. Dadali
Format:	Article
Language:	Russian
Published:	ABV-press 2018-04-01
Series:	Nervno-Myšečnye Bolezni
Subjects:	lamb–shaffer syndrome exome sequencing sox5 gene monogenic syndromes retardation of motor and speech development intellectual deficiency
Online Access:	https://nmb.abvpress.ru/jour/article/view/261

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spelling	doaj-38bb959f5b86409da669bcb3214a73162021-07-29T08:13:28ZrusABV-pressNervno-Myšečnye Bolezni2222-87212413-04432018-04-0181343710.17650/2222-8721-2018-8-1-34-37196Lamb–Shaffer syndrome, deferred outside not described by SOX5 mutationI. V. Sharkova0E. L. Dadali1Research Center of Medical GeneticsResearch Center of Medical GeneticsClinical and genetic characteristics of a patient with Lamb–Shaffer syndrome due to the newly discovered heterozygous missense mutation p.1868A>C in the 14 exon of the SOX5 gene are presented in the next generation sequencing of exom. It is shown that, in contrast to the previously described patients due to the presence of a deletion in the region of the gene or segment of chromosome 12p12.1, in the presence of missense mutation, the intellectual deficit and the dysmorphic features of the structure are not pronounced sharply and there is no anomaly in the development of other organs and systems.https://nmb.abvpress.ru/jour/article/view/261lamb–shaffer syndromeexome sequencingsox5 genemonogenic syndromesretardation of motor and speech developmentintellectual deficiency
collection	DOAJ
language	Russian
format	Article
sources	DOAJ
author	I. V. Sharkova E. L. Dadali
spellingShingle	I. V. Sharkova E. L. Dadali Lamb–Shaffer syndrome, deferred outside not described by SOX5 mutation Nervno-Myšečnye Bolezni lamb–shaffer syndrome exome sequencing sox5 gene monogenic syndromes retardation of motor and speech development intellectual deficiency
author_facet	I. V. Sharkova E. L. Dadali
author_sort	I. V. Sharkova
title	Lamb–Shaffer syndrome, deferred outside not described by SOX5 mutation
title_short	Lamb–Shaffer syndrome, deferred outside not described by SOX5 mutation
title_full	Lamb–Shaffer syndrome, deferred outside not described by SOX5 mutation
title_fullStr	Lamb–Shaffer syndrome, deferred outside not described by SOX5 mutation
title_full_unstemmed	Lamb–Shaffer syndrome, deferred outside not described by SOX5 mutation
title_sort	lamb–shaffer syndrome, deferred outside not described by sox5 mutation
publisher	ABV-press
series	Nervno-Myšečnye Bolezni
issn	2222-8721 2413-0443
publishDate	2018-04-01
description	Clinical and genetic characteristics of a patient with Lamb–Shaffer syndrome due to the newly discovered heterozygous missense mutation p.1868A>C in the 14 exon of the SOX5 gene are presented in the next generation sequencing of exom. It is shown that, in contrast to the previously described patients due to the presence of a deletion in the region of the gene or segment of chromosome 12p12.1, in the presence of missense mutation, the intellectual deficit and the dysmorphic features of the structure are not pronounced sharply and there is no anomaly in the development of other organs and systems.
topic	lamb–shaffer syndrome exome sequencing sox5 gene monogenic syndromes retardation of motor and speech development intellectual deficiency
url	https://nmb.abvpress.ru/jour/article/view/261
work_keys_str_mv	AT ivsharkova lambshaffersyndromedeferredoutsidenotdescribedbysox5mutation AT eldadali lambshaffersyndromedeferredoutsidenotdescribedbysox5mutation
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Lamb–Shaffer syndrome, deferred outside not described by SOX5 mutation

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