Low significance of MECP2 mutations as a cause of mental retardation in Brazilian males.

Abstract:

:MeCP2 is a protein that selectively binds to methylated cytosines through its methyl-CpG-binding domain (MBD) and connects DNA methylation to transcriptional repression. Mutations in MECP2 gene, located in Xq28, have been reported as being the major cause of Rett syndrome and are also associated with some cases of X-linked mental retardation in both males and females. In this study, we present the first screening in the MECP2 gene in a Brazilian cohort of 239 unrelated males with idiopathic mental retardation. Eight sequence variations were observed in 10 patients: one novel putative pathogenic variant, two never described variants of unknown pathogenic value and five non-pathogenic variations. We conclude that in mentally retarded Brazilian males, non-pathogenic variants in the MECP2 gene are more common than actual pathogenic mutations, and therefore alterations in this gene have a weak relationship with mental retardation in males.

journal_name

Brain Dev

journal_title

Brain & development

authors

Campos M Jr,Abdalla CB,Santos-Rebouças CB,dos Santos AV,Pestana CP,Domingues ML,dos Santos JM,Pimentel MM

doi

10.1016/j.braindev.2006.09.012

subject

Has Abstract

pub_date

2007-06-01 00:00:00

pages

293-7

issue

5

eissn

0387-7604

issn

1872-7131

pii

S0387-7604(06)00233-6

journal_volume

29

pub_type

杂志文章
  • Hyperammonemia in a case of herpes simplex and anti-N-methyl-d-aspartate receptor encephalitis.

    abstract::Herpes simplex encephalitis (HSE) is a widely accepted risk factor for anti N-methyl-d-aspartate receptor (NMDAR) encephalitis. Association of inherited metabolic disease has never been reported in a patient with HSE and anti-NMDAR encephalitis. Herein, we report a case of pediatric HSE complicated by development of a...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/j.braindev.2019.03.013

    authors: Ko JM,Kim WJ,Kim SY,Lee JH,Chae JH,Kim KJ,Lim BC

    更新日期:2019-08-01 00:00:00

  • A clinical study of attention-deficit/hyperactivity disorder in preschool children--prevalence and differential diagnoses.

    abstract:OBJECTIVE:We aimed to examine (1) the prevalence and characteristics of ADHD in preschool children, and (2) differential diagnoses among children who display symptoms of inattention and hyperactivity-impulsivity in early childhood. METHODS:The participants were children living in Kanie-cho, in Japan's Aichi Prefecture...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/j.braindev.2013.11.004

    authors: Nomura K,Okada K,Noujima Y,Kojima S,Mori Y,Amano M,Ogura M,Hatagaki C,Shibata Y,Fukumoto R

    更新日期:2014-10-01 00:00:00

  • Quantitative assessment of fine motor skills in children using magnetic sensors.

    abstract:AIM:We aimed to establish objective and quantitative data on fine motor development in typically developing children using magnetic sensors. METHODS:The study included 110 Japanese elementary school children volunteers (57 boys, 53 girls). The participants were instructed to tap their thumbs and index fingers together...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/j.braindev.2020.03.004

    authors: Enokizono T,Ohto T,Tanaka M,Maruo K,Sano Y,Kandori A,Takada H

    更新日期:2020-06-01 00:00:00

  • Pedoscope studies on neonatal activity and center of gravity after delivery.

    abstract::Seventeen normal term infants delivered at the Jikei University School of Medicine were placed daily on a pedoscope in the supine and prone position after birth, and the movement of the gravity center and changes in the activities of the extremities were assessed. The results indicated that both the activity of the ex...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/s0387-7604(86)80118-8

    authors: Maekawa K,Soeda A,Yokoi S,Maekawa N,Usui N,Kiryu T,Hirasawa Y,Akamatsu H,Kamanaka A,Wada M

    更新日期:1986-01-01 00:00:00

  • Lacosamide for children with paroxysmal kinesigenic dyskinesia.

    abstract:OBJECTIVES:This study was performed to evaluate the efficacy and tolerability of lacosamide (LCM) for paroxysmal kinesigenic dyskinesia (PKD) in children. METHODS:We retrospectively reviewed the medical charts of pediatric PKD patients (aged <16 years) treated with LCM. Data regarding demographic characteristics, prol...

    journal_title:Brain & development

    pub_type:

    doi:10.1016/j.braindev.2020.04.009

    authors: Furukawa G,Negishi Y,Takeuchi T,Ishihara N,Okumura A

    更新日期:2020-09-01 00:00:00

  • PIGA related disorder as a range of phenotypes rather than two distinct subtypes.

    abstract::Patients with germline phosphatidylinositol glycan biosynthesis class A (PIGA) related disorder have historically been categorized into one of two distinct subtypes: a severe form which is often fatal, and a less severe form. However, the increasing number of cases with features indicative of both subtypes raise the p...

    journal_title:Brain & development

    pub_type:

    doi:10.1016/j.braindev.2019.10.002

    authors: Cash SJ,Mcgue BP,Reynolds TS,Crist ER

    更新日期:2020-02-01 00:00:00

  • Late-onset Leigh syndrome with myoclonic epilepsy with ragged-red fibers.

    abstract::We report the case of a boy with myoclonic epilepsy with ragged-red fibers (MERRF) who had astatic seizures since 2 years of age and later developed ataxia, absence seizures, and myoclonus. Almost homoplasmic A8344G mutation of mitochondrial DNA (m.8344A>G mutation) was detected in lymphocytes. He developed late-onset...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/j.braindev.2012.08.006

    authors: Monden Y,Mori M,Kuwajima M,Goto T,Yamagata T,Momoi MY

    更新日期:2013-06-01 00:00:00

  • Diagnosis of metachromatic leukodystrophy in a patient with regression and Phelan-McDermid syndrome.

    abstract::Phelan-McDermid syndrome (PMS) is a 22q13.3 deletion syndrome. Most PMS patients show global developmental delay and some of them suffer from developmental regression. The deleted region contains ARSA, which is responsible for metachromatic leukodystrophy (MLD). Here we report an extremely rare case of PMS characteriz...

    journal_title:Brain & development

    pub_type:

    doi:10.1016/j.braindev.2020.02.003

    authors: Ahn H,Seo GH,Keum C,Heo SH,Kim T,Choi J,Yum MS,Lee BH

    更新日期:2020-05-01 00:00:00

  • Isolated pyramidal tract impairment in the central nervous system of adult-onset Krabbe disease with novel mutations in the GALC gene.

    abstract::This report describes a 60-year-old female patient with Krabbe disease who presented with slowly progressive gait disturbance due to mild spastic paraplegia. Brain magnetic resonance imaging showed high-intensity lesions along the upper parts of the bilateral pyramidal tracts in fluid-attenuated inversion recovery ima...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/j.braindev.2012.08.004

    authors: Tokushige S,Sonoo T,Maekawa R,Shirota Y,Hanajima R,Terao Y,Matsumoto H,Hossain MA,Sakai N,Shiio Y

    更新日期:2013-06-01 00:00:00

  • Rett syndrome: report of eight cases.

    abstract::The author reports eight cases of the Rett syndrome, or dementia-ataxia-autism, in girls. The cases satisfy the following criteria: Normal development in the first mos of life. Profound deterioration of the mental status over a period of several mos. Behavioral pseudoautistic abnormalities. Presence of neurological si...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/s0387-7604(85)80030-9

    authors: Rolando S

    更新日期:1985-01-01 00:00:00

  • Childhood disintegrative disorder.

    abstract::In 1908 a Viennese remedial educator Theodor Heller described six children under the name of dementia infantilis who had insidiously developed a severe mental regression between the 3rd and 4th years of life after normal mental development. Neuropathological and other medical conditions are sometimes associated with t...

    journal_title:Brain & development

    pub_type: 杂志文章,评审

    doi:10.1016/s0387-7604(02)00228-0

    authors: Mouridsen SE

    更新日期:2003-06-01 00:00:00

  • Long-term effectiveness and side effects of acetazolamide as an adjunct to other anticonvulsants in the treatment of refractory epilepsies.

    abstract::The long-term effectiveness of acetazolamide (AZA) and its side effects, especially the formation of renal calculi, were investigated in a prospective study when AZA was used as an adjunct to other antiepileptic drugs in the treatment of refractory epilepsies. The subjects comprised 37 patients aged from 1 to 17 years...

    journal_title:Brain & development

    pub_type: 临床试验,杂志文章

    doi:10.1016/s0387-7604(02)00003-7

    authors: Katayama F,Miura H,Takanashi S

    更新日期:2002-04-01 00:00:00

  • Expectations and anxieties of Duchenne muscular dystrophy patients and their families during the first-in-human clinical trial of NS-065/NCNP-01.

    abstract::Duchenne muscular dystrophy (DMD) is a recessive X-linked genetic disease caused by a mutation in the dystrophin gene. The new drug NS-065/NCNP-01 utilizing exon-skipping therapy targeting specific deletions has been used in a first-in-human trial for the treatment of DMD. We surveyed 10 pairs of DMD participants and ...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/j.braindev.2020.01.001

    authors: Shimizu R,Ohata M,Tachimori H,Kimura E,Harada Y,Takeshita E,Tamaura A,Takeda S,Komaki H

    更新日期:2020-04-01 00:00:00

  • Familial lissencephaly with extreme neopallial hypoplasia.

    abstract::Two siblings, male and female, with identical lethal brain malformation are described. Their anomaly is characterized by very low brain weight, lissencephaly, wide ventricles and thin neopallium (colpocephaly) varying in thickness between 0.2 and 3 mm. The neocortex is four layered as in classic lissencephaly. Brainst...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/s0387-7604(82)80008-9

    authors: Barth PG,Mullaart R,Stam FC,Slooff JL

    更新日期:1982-01-01 00:00:00

  • ALDH18A1-related cutis laxa syndrome with cyclic vomiting.

    abstract::Cutis laxa (CL) syndromes are connective tissue disorders characterized by redundant, sagging, inelastic and wrinkled skin, with organ involvement. Here, we describe a patient with ALDH18A1-related CL who developed cyclic vomiting. The patient was a 12-year-old boy who presented with poor postnatal growth, hypotonia, ...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/j.braindev.2016.01.003

    authors: Nozaki F,Kusunoki T,Okamoto N,Yamamoto Y,Miya F,Tsunoda T,Kosaki K,Kumada T,Shibata M,Fujii T

    更新日期:2016-08-01 00:00:00

  • Peripheral nerve abnormalities in pediatric patients with spinal muscular atrophy.

    abstract::We examined the specific nerve conduction deficits distinguishing spinal muscular atrophy (SMA) subtypes I and II. Five SMA I patients (age, 0.2-1.1 years) and 10 SMA II patients (age, 1.0-2.8 years) were examined. Patients were compared to age-matched controls for motor and sensory conduction velocity (MCV and SCV) c...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/j.braindev.2012.03.009

    authors: Yonekawa T,Komaki H,Saito Y,Sugai K,Sasaki M

    更新日期:2013-02-01 00:00:00

  • New quantitative method for evaluation of motor functions applicable to spinal muscular atrophy.

    abstract:OBJECTIVE:The aim of this study was to develop and introduce new method to quantify motor functions of the upper extremity. METHODS:The movement was recorded using a three-dimensional motion capture system, and the movement trajectory was analyzed using newly developed two indices, which measure precise repeatability ...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/j.braindev.2017.12.003

    authors: Matsumaru N,Hattori R,Ichinomiya T,Tsukamoto K,Kato Z

    更新日期:2018-03-01 00:00:00

  • Reduction in cerebral blood flow volume in infants complicated with hypoxic ischemic encephalopathy resulting in cerebral palsy.

    abstract::Hypoxic ischemic brain can result in cerebral palsy, mental retardation, and learning disabilities in surviving children. The purpose of this study was to elucidate the cerebral blood flow volume in infants complicated with brain damage after the birth. Nine term infants with hypoxic ischemic encephalopathy and 41 nor...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/j.braindev.2007.08.008

    authors: Fukuda S,Mizuno K,Kawai S,Kakita H,Goto T,Hussein MH,Daoud GA,Ito T,Kato I,Suzuki S,Togari H

    更新日期:2008-04-01 00:00:00

  • Fibroblast screening for chaperone therapy in beta-galactosidosis.

    abstract::We performed screening of beta-galactosidase-deficient fibroblasts for possible chemical chaperone therapy using N-octyl-4-epi-beta-valienamine (NOEV) in patients with GM1-gangliosidosis and Morquio B disease (beta-galactosidosis). Fibroblasts were cultured with NOEV for 4 days and beta-galactosidase activity was meas...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/j.braindev.2006.02.002

    authors: Iwasaki H,Watanabe H,Iida M,Ogawa S,Tabe M,Higaki K,Nanba E,Suzuki Y

    更新日期:2006-09-01 00:00:00

  • Association between Tourette syndrome and comorbidities in Japan.

    abstract::The purpose of this study was (1) to document cases of Tourette syndrome (TS) with comorbidities such as obsessive-compulsive symptoms (OCS) and hyperkinetic disorder (HD), and (2) to examine differences in clinical characteristics between TS patients with OCS and HD and those without these comorbidities. The subjects...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/j.braindev.2009.01.005

    authors: Kano Y,Ohta M,Nagai Y,Scahill L

    更新日期:2010-03-01 00:00:00

  • An extra-axial hemangioma mimicking a large prenatal brain tumor.

    abstract::A rare case of a congenital brain tumor was diagnosed by sonography in a fetus at 37weeks' gestation. The ultrasound examination showed a large area of both increased echogenicity and echolucency in one hemisphere suggestive of brain tumor or hemorrhage. Extensive surgical removal of the tumor was performed and reveal...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/j.braindev.2010.02.006

    authors: Yang CY,Hsu JF,Lin KL,Jung SM,Lien R,Chang YL

    更新日期:2010-11-01 00:00:00

  • Carnitine deficiency: Risk factors and incidence in children with epilepsy.

    abstract:BACKGROUND:Carnitine deficiency is relatively common in epilepsy; risk factors reportedly include combination antiepileptic drug (AED) therapy with valproic acid (VPA), young age, intellectual disability, diet and enteral or parenteral feeding. Few studies have examined the correlation between each risk factor and carn...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/j.braindev.2014.12.004

    authors: Fukuda M,Kawabe M,Takehara M,Iwano S,Kuwabara K,Kikuchi C,Wakamoto H,Morimoto T,Suzuki Y,Ishii E

    更新日期:2015-09-01 00:00:00

  • Mass screening electroencephalography.

    abstract::From 1971 to 1978, 5,202 schoolchildren from the first to the 9th grade underwent mass screening EEG. Paroxysmal discharges were recognized in 1.7%. Focal paroxysmal discharges appeared most frequently and the temporal, occipital, and central areas were the most common sites. Children having autonomic seizures, psycho...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/s0387-7604(81)80054-x

    authors: Tsuchiya S

    更新日期:1981-01-01 00:00:00

  • Paroxysmal EEG abnormalities and epilepsy in pervasive developmental disorders: follow-up study until adolescence and beyond.

    abstract::This study examined paroxysmal abnormalities and epilepsy in EEG for individuals with pervasive developmental disorders (PDD) in two parts: first with a large number of subjects (n=1624); and second with extracted subjects followed from 5 years into adolescence and beyond (n=92). Many paroxysms in PDD patients in thei...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/j.braindev.2010.06.004

    authors: Kawasaki Y,Shinomiya M,Takayanagi M,Niwa S

    更新日期:2010-10-01 00:00:00

  • Clinical analysis of catastrophic epilepsy in infancy and early childhood: results of the Far-East Asia Catastrophic Epilepsy (FACE) study group.

    abstract:PURPOSE:We studied children younger than 6years old who developed catastrophic epilepsy and were registered in the FACE study group to clarify their clinical characteristics and prevalence of seizure as well as epilepsy types. SUBJECTS:Subjects were prospectively recruited from children with epilepsy who satisfied the...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/j.braindev.2013.02.004

    authors: Oguni H,Otsuki T,Kobayashi K,Inoue Y,Watanabe E,Sugai K,Takahashi A,Hirose S,Kameyama S,Yamamoto H,Hamano S,Baba K,Baba H,Hong SC,Kim HD,Kang HC,Luan G,Wong TT

    更新日期:2013-09-01 00:00:00

  • Hydranencephaly in twins.

    abstract::The sixth case of hydranencephaly in a twin is reported. The patient is an 11-year-old girl, and her twin was stillborn and macerated. Intrauterine disseminated intravascular coagulation may be the cause of hydranencephaly in this patient. ...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/s0387-7604(80)80026-x

    authors: Yoshioka H,Yoshida A,Ochi M,Mino M,Kasubuchi Y,Sawada T,Kusunoki T

    更新日期:1980-01-01 00:00:00

  • Clinical onset and prognosis of Asian children with organic acidemias, as detected by analysis of urinary organic acids using GC/MS, instead of mass screening.

    abstract::Organic acidemias (OAs) have been detected worldwide in symptomatic patients using gas chromatography mass spectrometry. We diagnosed 188 Asian cases of OAs by analysis of urinary organic acids and investigated their clinical onset and outcome. Methylmalonic acidemia (MMA) was most common (74 cases), followed by propi...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/j.braindev.2004.04.004

    authors: Hori D,Hasegawa Y,Kimura M,Yang Y,Verma IC,Yamaguchi S

    更新日期:2005-01-01 00:00:00

  • A case of generalized lymphatic anomaly causing skull-base leakage and bacterial meningitis.

    abstract::Generalized lymphatic anomaly is a multifocal lymphatic malformation that affects the skin, thoracic viscera, and bones. A 3year-old Japanese boy presented with right facial palsy due to cystic tumors in the ipsilateral petrous bone. Pericardial effusion had been found incidentally and generalized lymphatic anomaly ha...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/j.braindev.2016.12.007

    authors: Suga K,Goji A,Inoue M,Kawahito M,Taki M,Mori K

    更新日期:2017-05-01 00:00:00

  • Correlation between the serum level of endotoxin and periventricular leukomalacia in preterm infants.

    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

    authors: Okumura A,Hayakawa F,Kato T,Kuno K,Watanabe K

    更新日期:1999-09-01 00:00:00

  • Prognosis for seizure control in infantile spasms preceded by other seizures.

    abstract::Thirteen to 43% of patients with infantile spasms (IS) have other types of seizures, which are considered a feature of an unfavourable prognosis and, to some extent, as a contra-indication for steroid treatment. The present series comprised 43 patients treated with steroids, who suffered from other types of seizures p...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/s0387-7604(12)80311-1

    authors: Velez A,Dulac O,Plouin P

    更新日期:1990-01-01 00:00:00