First case report of Rett syndrome in the Azeri Turkish population and brief review of the literature

Rett syndrome is a dominant X-linked male-lethal disorder largely caused by mutations in the gene encoding methyl-CpG binding protein 2 (MECP2). Clinical manifestations include neurodevelopmental disorder characterized by early-onset intractable seizures, severe developmental delay, intellectual dis...

Full description

Bibliographic Details
Main Authors:	Jalal Gharesouran, Azizeh Farshbaf Khalili, Noushin Sorkhkoh Azari, Leila Vahedi
Format:	Article
Language:	English
Published:	Elsevier 2015-01-01
Series:	Epilepsy and Behavior Case Reports
Subjects:	Rett syndrome MECP2 mutation Azeri Turkish population
Online Access:	http://www.sciencedirect.com/science/article/pii/S2213323214000541

id	doaj-7ba170e069b840d4a7f5a53cf100293b
record_format	Article
spelling	doaj-7ba170e069b840d4a7f5a53cf100293b2020-11-24T21:04:25ZengElsevierEpilepsy and Behavior Case Reports2213-32322015-01-013C151910.1016/j.ebcr.2014.11.001First case report of Rett syndrome in the Azeri Turkish population and brief review of the literatureJalal Gharesouran0Azizeh Farshbaf Khalili1Noushin Sorkhkoh Azari2Leila Vahedi3Genetic Counseling Center of Allameh Amini, State Welfare Organization, Tabriz, IranDepartment of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, IranDepartment of Midwifery, Faculty of Nursing and Midwifery, Research Center of National Public Health Management (NPMC), Tabriz University of Medical Sciences, Tabriz, IranLiver and Gastrointestinal Disease Research Center, Tabriz Children's Hospital, Tabriz University of Medical Sciences, Tabriz, IranRett syndrome is a dominant X-linked male-lethal disorder largely caused by mutations in the gene encoding methyl-CpG binding protein 2 (MECP2). Clinical manifestations include neurodevelopmental disorder characterized by early-onset intractable seizures, severe developmental delay, intellectual disability, and abnormal electroencephalograms. Afflicted females show normal development until the age of 6 to 18 months, followed by gradual loss of speech abilities, microcephaly, social impairment, ataxia, and stereotypic hand movements. We report a 7-year-old girl who was born of a nonconsanguineous marriage presenting with mental retardation and delayed development. Physical examination revealed loss of speech, repetitive hand-wringing movement, short stature (120 cm), strabismus, microcephaly, and autistic behavior. The diagnosis was confirmed by sequencing MECP2 gene with heterozygous mutation C385A in exon 2. The current study aimed to report the first case of Rett syndrome in the Azeri Turkish population.http://www.sciencedirect.com/science/article/pii/S2213323214000541Rett syndromeMECP2 mutationAzeri Turkish population
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Jalal Gharesouran Azizeh Farshbaf Khalili Noushin Sorkhkoh Azari Leila Vahedi
spellingShingle	Jalal Gharesouran Azizeh Farshbaf Khalili Noushin Sorkhkoh Azari Leila Vahedi First case report of Rett syndrome in the Azeri Turkish population and brief review of the literature Epilepsy and Behavior Case Reports Rett syndrome MECP2 mutation Azeri Turkish population
author_facet	Jalal Gharesouran Azizeh Farshbaf Khalili Noushin Sorkhkoh Azari Leila Vahedi
author_sort	Jalal Gharesouran
title	First case report of Rett syndrome in the Azeri Turkish population and brief review of the literature
title_short	First case report of Rett syndrome in the Azeri Turkish population and brief review of the literature
title_full	First case report of Rett syndrome in the Azeri Turkish population and brief review of the literature
title_fullStr	First case report of Rett syndrome in the Azeri Turkish population and brief review of the literature
title_full_unstemmed	First case report of Rett syndrome in the Azeri Turkish population and brief review of the literature
title_sort	first case report of rett syndrome in the azeri turkish population and brief review of the literature
publisher	Elsevier
series	Epilepsy and Behavior Case Reports
issn	2213-3232
publishDate	2015-01-01
description	Rett syndrome is a dominant X-linked male-lethal disorder largely caused by mutations in the gene encoding methyl-CpG binding protein 2 (MECP2). Clinical manifestations include neurodevelopmental disorder characterized by early-onset intractable seizures, severe developmental delay, intellectual disability, and abnormal electroencephalograms. Afflicted females show normal development until the age of 6 to 18 months, followed by gradual loss of speech abilities, microcephaly, social impairment, ataxia, and stereotypic hand movements. We report a 7-year-old girl who was born of a nonconsanguineous marriage presenting with mental retardation and delayed development. Physical examination revealed loss of speech, repetitive hand-wringing movement, short stature (120 cm), strabismus, microcephaly, and autistic behavior. The diagnosis was confirmed by sequencing MECP2 gene with heterozygous mutation C385A in exon 2. The current study aimed to report the first case of Rett syndrome in the Azeri Turkish population.
topic	Rett syndrome MECP2 mutation Azeri Turkish population
url	http://www.sciencedirect.com/science/article/pii/S2213323214000541
work_keys_str_mv	AT jalalgharesouran firstcasereportofrettsyndromeintheazeriturkishpopulationandbriefreviewoftheliterature AT azizehfarshbafkhalili firstcasereportofrettsyndromeintheazeriturkishpopulationandbriefreviewoftheliterature AT noushinsorkhkohazari firstcasereportofrettsyndromeintheazeriturkishpopulationandbriefreviewoftheliterature AT leilavahedi firstcasereportofrettsyndromeintheazeriturkishpopulationandbriefreviewoftheliterature
_version_	1716771104990691328

First case report of Rett syndrome in the Azeri Turkish population and brief review of the literature

Similar Items