Abstract：
:Mutations in the methyl-CpG-binding protein 2 gene (MECP2) are identified in the majority of females with Rett syndrome (RTT), an X-linked dominant neurodevelopmental disorder. We searched for mutations by sequencing the MECP2 coding region in 45 sporadic cases (35 with classic RTT, eight with variant forms and two males) and in seven families with two or more affected females. Following our previous report of mutations in two families and eight sporadic cases, we here present 18 additional mutations. We found 13 single nucleotide substitutions, all of which are C-->T transitions at CpG hot spots. Frameshift mutations, leading to premature termination of translation, include two single guanine (G) nucleotide deletions from a stretch of contiguous Gs, a novel four nucleotide deletion, a novel 32 nucleotide deletion in the C-terminal domain and a novel complex duplication/deletion rearrangement in the same region. When X-chromosome inactivation patterns were compared in 16 MECP2 mutation-positive and 23 mutation-negative samples, no significant differences were observed. The mutational spectrum in our subject population is similar to studies from around the world. Of over 300 MECP2 mutations reported, two-thirds are truncating mutations and one-third are missense mutations, mostly in the methyl-binding domain. Nearly 70% of all identified mutations are C-->T transitions at one of eight CpG hot spots, and about 10% are intragenic deletions or complex rearrangements that lead to frameshifts in the C-terminal region. The rate of mutation detection in the MECP2 coding region ranges from 70 to 85% in clinically diagnosed RTT and is much lower in diagnostic variants.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Lee SS,Wan M,Francke Udoi
10.1016/s0387-7604(01)00339-4keywords:
subject
Has Abstractpub_date
2001-12-01 00:00:00pages
S138-43eissn
0387-7604issn
1872-7131pii
S0387760401003394journal_volume
23 Suppl 1pub_type
杂志文章abstract：INTRODUCTION:We performed this study to confirm the known risk factors and to identify possible new risk factors for subsequent unprovoked seizure after febrile seizure (FS) on Jeju Island, South Korea. METHODS:A population-based retrospective study of 204 children with FS, whose first FS developed between March 2003 ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2014.06.003
更新日期：2015-03-01 00:00:00
abstract：BACKGROUND:The underlying genetic abnormalities of rare familial idiopathic epilepsy have been identified, such as mutation in KCNQ2, a K(+) channel gene. Yet, few genetic abnormalities have been reported for commoner epilepsy, i.e., sporadic idiopathic epilepsy, which share a phenotype similar to those of familial epi...
journal_title：Brain & development
pub_type： 杂志文章
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更新日期：2009-01-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
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更新日期：2011-05-01 00:00:00
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更新日期：2021-01-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2009.04.016
更新日期：2010-04-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2009.07.003
更新日期：2010-08-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/0387-7604(94)90048-5
更新日期：1994-03-01 00:00:00
abstract：:Neurofibromatosis type 2 (NF2) is an autosomal dominant multiple neoplasia syndrome of the central nervous system. The aim of the present study was to characterize the clinical course of early onset NF2. The specific Japanese disease registry for NF2 in 2010 was analyzed retrospectively. The male:female ratio for the ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2013.01.007
更新日期：2014-02-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章,评审
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更新日期：2003-10-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2009.09.003
更新日期：2010-09-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2011.12.009
更新日期：2012-10-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/S0387-7604(03)00110-4
更新日期：2004-03-01 00:00:00
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journal_title：Brain & development
pub_type： 临床试验,杂志文章
doi：10.1016/j.braindev.2009.03.010
更新日期：2010-03-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2015.07.008
更新日期：2016-02-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2019.03.013
更新日期：2019-08-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2013.02.004
更新日期：2013-09-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2016.01.005
更新日期：2016-08-01 00:00:00
abstract：:In order to elucidate the molecular mechanisms underlying neuronal migration in the developing rat cerebral cortex, a novel primary tissue culture system in which neuronal migration can be evaluated was developed. Using this culture system, through autoradiographic studies we demonstrated the migration of [3H]thymidin...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(97)00057-0
更新日期：1997-11-01 00:00:00
abstract：:Hereditary progressive dystonia (HPD) with marked diurnal fluctuation is caused by mutant guanosine triphosphate (GTP) cyclohydrolase I (GCH). The clinical presentation of dominant HPD varies considerably. We proposed the hypothesis that a relative increase of mutant GCH capable of inhibiting normal GCH is responsible...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(00)00135-2
更新日期：2000-09-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(86)80118-8
更新日期：1986-01-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章,评审
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更新日期：1993-01-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(12)80067-2
更新日期：1990-01-01 00:00:00
abstract：:Assessment of treatment strategies in febrile seizures should be based on short- and long-term outcomes, with and without acute, intermittent, or chronic medical intervention, as well as short- and long-term side effects. Febrile seizures are a benign condition with a normal neurological, motor, intellectual, and cogn...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/s0387-7604(96)00059-9
更新日期：1996-11-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/0387-7604(95)00047-f
更新日期：1995-07-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(12)80091-x
更新日期：1992-03-01 00:00:00
abstract：:Molybdenum cofactor deficiency is a rare and devastating disease leading to intractable seizures in the neonatal period. Severe loss of neocortical neurons, gliosis, and cystic necrosis of cerebral white matter resulting in significant cerebral volume loss are the neuropathological findings. The mechanism of cerebral ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(01)00316-3
更新日期：2001-12-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2013.11.004
更新日期：2014-10-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章,随机对照试验
doi：10.1016/j.braindev.2019.03.014
更新日期：2019-08-01 00:00:00
abstract：:Communicating hydrocephalus was inadvertently induced in a neonate by bilateral jugular vein catheterization. Removal of one catheter resulted in return to normal ventricular size within 14 days. The complication of hydrocephalus from bilateral jugular vein catheterization can be reversed by prompt removal of one cath...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(82)80026-0
更新日期：1982-01-01 00:00:00
abstract：:The objective of our study was to determine the relation between the serum level of endotoxin at birth and the development of periventricular leukomalacia (PVL) in preterm infants. We studied 68 preterm infants whose gestational ages ranged between 27 and 33 weeks, and birthweights between 1000 and 2000 g. The serum e...
journal_title：Brain & development
pub_type： 临床试验,杂志文章
doi：10.1016/s0387-7604(99)00036-4
更新日期：1999-09-01 00:00:00
