HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study.

Abstract:

BACKGROUND:X linked intellectual disability (XLID) syndromes account for a substantial number of males with ID. Much progress has been made in identifying the genetic cause in many of the syndromes described 20-40 years ago. Next generation sequencing (NGS) has contributed to the rapid discovery of XLID genes and identifying novel mutations in known XLID genes for many of these syndromes. METHODS:2 NGS approaches were employed to identify mutations in X linked genes in families with XLID disorders. 1 involved exome sequencing of genes on the X chromosome using the Agilent SureSelect Human X Chromosome Kit. The second approach was to conduct targeted NGS sequencing of 90 known XLID genes. RESULTS:We identified the same mutation, a c.12928 G>C transversion in the HUWE1 gene, which gives rise to a p.G4310R missense mutation in 2 XLID disorders: Juberg-Marsidi syndrome (JMS) and Brooks syndrome. Although the original families with these disorders were considered separate entities, they indeed overlap clinically. A third family was also found to have a novel HUWE1 mutation. CONCLUSIONS:As we identified a HUWE1 mutation in an affected male from the original family reported by Juberg and Marsidi, it is evident the syndrome does not result from a mutation in ATRX as reported in the literature. Additionally, our data indicate that JMS and Brooks syndromes are allelic having the same HUWE1 mutation.

journal_name

BMJ Open

journal_title

BMJ open

authors

Friez MJ,Brooks SS,Stevenson RE,Field M,Basehore MJ,Adès LC,Sebold C,McGee S,Saxon S,Skinner C,Craig ME,Murray L,Simensen RJ,Yap YY,Shaw MA,Gardner A,Corbett M,Kumar R,Bosshard M,van Loon B,Tarpey PS,Abidi F,G

doi

10.1136/bmjopen-2015-009537

subject

Has Abstract

pub_date

2016-04-29 00:00:00

pages

e009537

issue

4

issn

2044-6055

pii

bmjopen-2015-009537

journal_volume

6

pub_type

杂志文章

相关文献

BMJ Open文献大全
  • CT-diagnosed emphysema and prognosis of chronic airflow obstruction: a retrospective study.

    abstract:OBJECTIVE:CT-diagnosed emphysema is associated with poor prognosis in chronic obstructive pulmonary disease (COPD). Its clinical impacts on prognoses of asthma with chronic airflow obstruction (CAO) are not well known. We sought to compare mortalities and prognostic factors in COPD and asthma with CAO by the presence o...

    journal_title:BMJ open

    pub_type: 杂志文章

    doi:10.1136/bmjopen-2013-003541

    authors: Kurashima K,Fukuda C,Nakamoto K,Takaku Y,Hijikata N,Hoshi T,Kanauchi T,Ueda M,Takayanagi N,Sugita Y,Araki R

    更新日期:2013-11-04 00:00:00

  • Qualitative study of barriers to clinical trial retention in adults with recently diagnosed type 1 diabetes.

    abstract:OBJECTIVES:Regular physical exercise may preserve β cell function in newly diagnosed adults with type 1 diabetes (T1D). However, clinical trials to test this theory require the recruitment and retention of adults with new-onset T1D, which can be challenging. We sought to determine the overall experiences of newly diagn...

    journal_title:BMJ open

    pub_type: 杂志文章

    doi:10.1136/bmjopen-2018-022353

    authors: Henshall C,Narendran P,Andrews RC,Daley A,Stokes KA,Kennedy A,Greenfield S

    更新日期:2018-07-17 00:00:00

  • Cross-sectional analysis of the prevalence and predictors of statin utilisation in Ireland with a focus on primary prevention of cardiovascular disease.

    abstract:OBJECTIVE:To describe the prevalence of statin utilisation by people aged over 50 years in Ireland and the factors associated with the likelihood of using a statin, focusing particularly on those using statins for primary prevention of cardiovascular disease (CVD). METHODS:This is a cross-sectional analysis of cardiov...

    journal_title:BMJ open

    pub_type: 杂志文章

    doi:10.1136/bmjopen-2017-018524

    authors: Byrne P,Cullinan J,Murphy C,Smith SM

    更新日期:2018-02-08 00:00:00

  • Design of an ecological momentary assessment study of exposure to radiofrequency electromagnetic fields and non-specific physical symptoms.

    abstract:INTRODUCTION:Idiopathic Environmental Intolerance (IEI) attributed to electromagnetic fields (EMF) refers to self-reported sensitivity mainly characterised by the attribution of non-specific physical symptoms to low-level EMF exposure emitted from sources such as mobile phones. Scientific studies have not provided evid...

    journal_title:BMJ open

    pub_type: 杂志文章

    doi:10.1136/bmjopen-2013-002933

    authors: Bogers RP,Bolte JF,Houtveen JH,Lebret E,van Strien RT,Schipper CM,Alkadhimi M,Baliatsas C,van Kamp I

    更新日期:2013-08-29 00:00:00

  • Risk of depressive disorders after tobacco smoking cessation: a retrospective cohort study in Fukuoka, Japan.

    abstract:OBJECTIVE:We sought to examine the effect of smoking cessation on subsequent development of depressive disorders. DESIGN:This was a retrospective cohort study. METHODS:We used administrative claim and health check data from fiscal years 2010 to 2014, obtained from the largest health insurance association in Fukuoka, ...

    journal_title:BMJ open

    pub_type: 杂志文章

    doi:10.1136/bmjopen-2018-025124

    authors: Fujita T,Babazono A,Harano Y,Jiang P

    更新日期:2019-03-23 00:00:00

  • Improving the management of pain from advanced cancer in the community: study protocol for a pragmatic multicentre randomised controlled trial.

    abstract:INTRODUCTION:For patients with advanced cancer, research shows that pain is frequent, burdensome and undertreated. Evidence-based approaches to support cancer pain management have been developed but have not been implemented within the context of the UK National Health Service. This protocol is for a pragmatic multicen...

    journal_title:BMJ open

    pub_type: 杂志文章,多中心研究

    doi:10.1136/bmjopen-2018-021965

    authors: Allsop MJ,Wright-Hughes A,Black K,Hartley S,Fletcher M,Ziegler LE,Bewick BM,Meads D,Hughes ND,Closs SJ,Hulme C,Taylor S,Flemming K,Hackett J,O'Dwyer JL,Brown JM,Bennett MI

    更新日期:2018-03-22 00:00:00

  • Protocol for a randomised controlled trial of interventions to promote adoption and maintenance of physical activity in adults with mental illness.

    abstract:INTRODUCTION:Physical activity (PA) has diverse benefits for physical and mental health and can reduce symptoms of mental illness. Adults with mental illness face practical, psychosocial and socioeconomic barriers to adopting and maintaining PA, and it is unclear how to effectively promote PA in this group. Supervised ...

    journal_title:BMJ open

    pub_type: 杂志文章,随机对照试验

    doi:10.1136/bmjopen-2018-023460

    authors: Chapman JJ,Suetani S,Siskind D,Kisely S,Breakspear M,Byrne JH,Patterson S

    更新日期:2018-09-08 00:00:00

  • Changing consumption of resources for respiratory support and short-term outcomes in four consecutive geographical cohorts of infants born extremely preterm over 25 years since the early 1990s.

    abstract:OBJECTIVES:It is unclear how newer methods of respiratory support for infants born extremely preterm (EP; 22-27 weeks gestation) have affected in-hospital sequelae. We aimed to determine changes in respiratory support, survival and morbidity in EP infants since the early 1990s. DESIGN:Prospective longitudinal cohort s...

    journal_title:BMJ open

    pub_type: 杂志文章

    doi:10.1136/bmjopen-2020-037507

    authors: Cheong JLY,Olsen JE,Huang L,Dalziel KM,Boland RA,Burnett AC,Haikerwal A,Spittle AJ,Opie G,Stewart AE,Hickey LM,Anderson PJ,Doyle LW,Members of the Victorian Infant Collaborative Study Group.

    更新日期:2020-09-10 00:00:00

  • Cohort profile: the AUstralian Twin BACK pain and physical activity study (AUTBACK study).

    abstract:PURPOSE:Despite the growing evidence that physical activity and familial factors play a role in low back pain (LBP), there is a lack of robust longitudinal studies that (1) investigate the types and dosages of physical activity that are protective or harmful for LBP, (2) employ objective measures of physical activity a...

    journal_title:BMJ open

    pub_type: 杂志文章

    doi:10.1136/bmjopen-2019-036301

    authors: Carvalho-E-Silva AP,Pinheiro MB,Ferreira ML,Hübscher M,Calais-Ferreira L,Ferreira PH

    更新日期:2020-07-28 00:00:00

  • Access to medicines in Latin America and the Caribbean (LAC): a scoping study.

    abstract:OBJECTIVE:To assess scientific publication and map research gaps on access to medicines (ATM) in Latin American and the Caribbean low-income and middle-income countries (LMIC). DESIGN:Scoping review. Two independent reviewers assessed studies for inclusion and extracted data from each study. INFORMATION SOURCES:Searc...

    journal_title:BMJ open

    pub_type: 杂志文章

    doi:10.1136/bmjopen-2012-002224

    authors: Emmerick IC,Oliveira MA,Luiza VL,Azeredo TB,Bigdeli M

    更新日期:2013-05-03 00:00:00

  • Challenges and facilitators of hospice decision-making: a retrospective review of family caregivers of home hospice patients in a rural US-Mexico border region-a qualitative study.

    abstract:OBJECTIVES:Hospice care (HC) is seen as a comprehensive approach, that enhances quality of end-of-life (EOL) care, for terminally ill patients. Despite its positive aspects, HC enrolment is disproportionate for rural patients, who are less likely to use HC in comparison to their urban counterparts. The purpose of this ...

    journal_title:BMJ open

    pub_type: 杂志文章

    doi:10.1136/bmjopen-2019-035634

    authors: Ko E,Fuentes D,Singh-Carlson S,Nedjat-Haiem F

    更新日期:2020-07-01 00:00:00

  • Do sex differences in the prevalence of ECG abnormalities vary across ethnic groups living in the Netherlands? A cross-sectional analysis of the population-based HELIUS study.

    abstract:OBJECTIVES:Major ECG abnormalities have been associated with increased risk of cardiovascular disease (CVD) burden in asymptomatic populations. However, sex differences in occurrence of major ECG abnormalities have been poorly studied, particularly across ethnic groups. The objectives were to investigate (1) sex differ...

    journal_title:BMJ open

    pub_type: 杂志文章

    doi:10.1136/bmjopen-2020-039091

    authors: Bolijn R,Ter Haar CC,Harskamp RE,Tan HL,Kors JA,Postema PG,Snijder MB,Peters RJG,Kunst AE,van Valkengoed IGM

    更新日期:2020-09-03 00:00:00

  • Effectiveness of new legislation on partial sickness benefit on work participation: a quasi-experiment in Finland.

    abstract:OBJECTIVES:To examine the effect of the new legislation on partial sickness benefit on subsequent work participation of Finns with long-term sickness absence. Additionally, we investigated whether the effect differed by sex, age or diagnostic category. DESIGN:A register-based quasi-experimental study compared the inte...

    journal_title:BMJ open

    pub_type: 杂志文章

    doi:10.1136/bmjopen-2014-006685

    authors: Kausto J,Viikari-Juntura E,Virta LJ,Gould R,Koskinen A,Solovieva S

    更新日期:2014-12-24 00:00:00

  • Comprehensive scoping review of health research using social media data.

    abstract:INTRODUCTION:The rising popularity of social media, since their inception around 20 years ago, has been echoed in the growth of health-related research using data derived from them. This has created a demand for literature reviews to synthesise this emerging evidence base and inform future activities. Existing reviews ...

    journal_title:BMJ open

    pub_type: 杂志文章,评审

    doi:10.1136/bmjopen-2018-022931

    authors: Taylor J,Pagliari C

    更新日期:2018-12-14 00:00:00

  • Safety of tranexamic acid in thrombotic adverse events and seizure in patients with haemorrhage: a protocol for a systematic review and meta-analysis.

    abstract:INTRODUCTION:Tranexamic acid (TXA) is a synthetic derivative of the amino acid lysine that inhibits fibrinolysis by blocking lysine-binding sites on plasminogen, which contribute to reduced bleeding, the need for transfusion and mortality. Although there is reliable evidence of the efficacy of TXA, its effects on other...

    journal_title:BMJ open

    pub_type: 杂志文章

    doi:10.1136/bmjopen-2019-036020

    authors: Murao S,Nakata H,Yamakawa K

    更新日期:2020-06-22 00:00:00

  • Demographic and health community-based surveys to inform a malaria elimination project in Magude district, southern Mozambique.

    abstract:OBJECTIVES:A Demographic and Health Platform was established in Magude in 2015, prior to the deployment of a project aiming to evaluate the feasibility of malaria elimination in southern Mozambique, named the Magude project. This platform aimed to inform the design, implementation and evaluation of the Magude project, ...

    journal_title:BMJ open

    pub_type: 杂志文章

    doi:10.1136/bmjopen-2019-033985

    authors: Galatas B,Nhacolo A,Marti H,Munguambe H,Jamise E,Guinovart C,Cirera L,Amone F,Macete E,Bassat Q,Rabinovich R,Alonso P,Aide P,Saute F,Sacoor C

    更新日期:2020-05-05 00:00:00

  • Impact of sharing electronic health records with patients on the quality and safety of care: a systematic review and narrative synthesis protocol.

    abstract:INTRODUCTION:Providing patients with access to electronic health records (EHRs) has emerged as a promising solution to improve quality of care and safety. As the efforts to develop and implement EHR-based data sharing platforms mature and scale up worldwide, there is a need to evaluate the impact of these interventions...

    journal_title:BMJ open

    pub_type: 杂志文章

    doi:10.1136/bmjopen-2017-020387

    authors: Neves AL,Carter AW,Freise L,Laranjo L,Darzi A,Mayer EK

    更新日期:2018-08-13 00:00:00

  • Appropriateness of cases presenting in the emergency department following ambulance service secondary telephone triage: a retrospective cohort study.

    abstract:OBJECTIVE:To investigate the appropriateness of cases presenting to the emergency department (ED) following ambulance-based secondary telephone triage. DESIGN:A pragmatic retrospective cohort analysis of all the planned and unplanned ED presentations within 48 hours of a secondary telephone triage. SETTING:The second...

    journal_title:BMJ open

    pub_type: 杂志文章

    doi:10.1136/bmjopen-2017-016845

    authors: Eastwood K,Smith K,Morgans A,Stoelwinder J

    更新日期:2017-10-15 00:00:00

  • Gap between real-world data and clinical research within hospitals in China: a qualitative study.

    abstract:OBJECTIVE:To investigate the gap between real-world data and clinical research initiated by doctors in China, explore the potential reasons for this gap and collect different stakeholders' suggestions. DESIGN:This qualitative study involved three types of hospital personnel based on three interview outlines. The data ...

    journal_title:BMJ open

    pub_type: 杂志文章

    doi:10.1136/bmjopen-2020-038375

    authors: Jin F,Yao C,Yan X,Dong C,Lai J,Li L,Wang B,Tan Y,Zhu S

    更新日期:2020-12-29 00:00:00

  • Efficiency and productivity measurement of rural township hospitals in China: a bootstrapping data envelopment analysis.

    abstract:OBJECTIVE:Township hospitals (THs) are important components of the three-tier rural healthcare system of China. However, the efficiency and productivity of THs have been questioned since the healthcare reform was implemented in 2009. The objective of this study is to analyse the efficiency and productivity changes in T...

    journal_title:BMJ open

    pub_type: 杂志文章

    doi:10.1136/bmjopen-2016-011911

    authors: Cheng Z,Cai M,Tao H,He Z,Lin X,Lin H,Zuo Y

    更新日期:2016-11-11 00:00:00

  • Influence of alcohol use on mortality and expenditure during hospital admission: a cross-sectional study.

    abstract:OBJECTIVES:This study was designed to investigate the effect of alcohol intoxication on clinical presentation of hospitalised adult trauma patients at a Level I trauma centre using propensity score matching. DESIGN:Cross-sectional study. SETTING:Taiwan. PARTICIPANTS:Detailed data of 929 hospitalised adult trauma pat...

    journal_title:BMJ open

    pub_type: 杂志文章

    doi:10.1136/bmjopen-2016-013176

    authors: Peng SH,Hsu SY,Kuo PJ,Rau CS,Cheng YA,Hsieh CH

    更新日期:2016-11-01 00:00:00

  • Differences in research funding for women scientists: a systematic comparison of UK investments in global infectious disease research during 1997-2010.

    abstract:OBJECTIVES:There has not previously been a systematic comparison of awards for research funding in infectious diseases by sex. We investigated funding awards to UK institutions for all infectious disease research from 1997 to 2010, across disease categories and along the research and development continuum. DESIGN:Syst...

    journal_title:BMJ open

    pub_type: 杂志文章

    doi:10.1136/bmjopen-2013-003362

    authors: Head MG,Fitchett JR,Cooke MK,Wurie FB,Atun R

    更新日期:2013-12-09 00:00:00

  • Lithium for Fracture Treatment (LiFT): a double-blind randomised control trial protocol.

    abstract:INTRODUCTION:Fracture healing can fail in up to 10% of cases despite appropriate treatment. While lithium has been the standard treatment for bipolar disorder, it may also have a significant impact to increase bone healing in patients with long bone fractures. To translate this knowledge into clinical practice, a rando...

    journal_title:BMJ open

    pub_type: 杂志文章

    doi:10.1136/bmjopen-2019-031545

    authors: Nam D,Balasuberamaniam P,Milner K,Kunz M,Vachhani K,Kiss A,Whyne C

    更新日期:2020-01-07 00:00:00

  • Retrospective observational study of emergency department syndromic surveillance data during air pollution episodes across London and Paris in 2014.

    abstract:INTRODUCTION:Poor air quality (AQ) is a global public health issue and AQ events can span across countries. Using emergency department (ED) syndromic surveillance from England and France, we describe changes in human health indicators during periods of particularly poor AQ in London and Paris during 2014. METHODS:Usin...

    journal_title:BMJ open

    pub_type: 杂志文章

    doi:10.1136/bmjopen-2017-018732

    authors: Hughes HE,Morbey R,Fouillet A,Caserio-Schönemann C,Dobney A,Hughes TC,Smith GE,Elliot AJ

    更新日期:2018-04-19 00:00:00

  • Impact of an SMS advice programme on maternal and newborn health in rural China: study protocol for a quasi-randomised controlled trial.

    abstract:INTRODUCTION:Expectant mothers in low-income and middle-income countries often lack access to vital information about pregnancy, preparation for birth and best practices when caring for their newborn. Innovative solutions are needed to bridge this knowledge gap and dramatically improve maternal and neonatal health in t...

    journal_title:BMJ open

    pub_type: 杂志文章,随机对照试验

    doi:10.1136/bmjopen-2015-011016

    authors: Su Y,Yuan C,Zhou Z,Heitner J,Campbell B

    更新日期:2016-08-10 00:00:00

  • Quality indicators for cardiac rehabilitation after myocardial infarction in China: a consensus panel and practice test.

    abstract:OBJECTIVES:Cardiac rehabilitation (CR) improves outcomes after myocardial infarction (MI), but it is underused in China. The purpose of this study was to develop a set of quality indicators (QIs) to improve clinical practices and to confirm the measurability and performance of the developed QIs for CR in Chinese patien...

    journal_title:BMJ open

    pub_type: 杂志文章

    doi:10.1136/bmjopen-2020-039757

    authors: Zheng X,Zhang M,Zheng Y,Zhang Y,Wang J,Zhang P,Yang X,Li S,Ding R,Siqin G,Hou X,Chen L,Zhang M,Sun Y,Wu J,Yu B

    更新日期:2020-12-30 00:00:00

  • Impact of caesarean section on breastfeeding indicators: within-country and meta-analyses of nationally representative data from 33 countries in sub-Saharan Africa.

    abstract:OBJECTIVE:To examine the impact of caesarean section on breastfeeding indicators-early initiation of breastfeeding, exclusive breastfeeding under 6 months and children ever breastfed (at least once)-in sub-Saharan Africa. DESIGN:Secondary analysis of Demographic and Health Surveys (DHS). SETTING:Thirty-three low-inco...

    journal_title:BMJ open

    pub_type: 杂志文章,meta分析

    doi:10.1136/bmjopen-2018-027497

    authors: Yisma E,Mol BW,Lynch JW,Smithers LG

    更新日期:2019-09-04 00:00:00

  • Associations between damage location and five main body region injuries of MAIS 3-6 injured occupants.

    abstract:OBJECTIVES:To examine the damage location distribution of five main body region injuries of maximum abbreviated injury score (MAIS) 3-6 injured occupants for nearside struck vehicle in front-to-side impact crashes. DESIGN AND SETTING:MAIS 3-6 injured occupants information was extracted from the US-National Automotive ...

    journal_title:BMJ open

    pub_type: 杂志文章

    doi:10.1136/bmjopen-2013-004371

    authors: Tang Y,Cao L,Kan S

    更新日期:2014-05-08 00:00:00

  • Risk factors for dermatitis in submariners during a submerged patrol: an observational cohort study.

    abstract:OBJECTIVE:The aim of this pilot study was to determine risk factors, including Staphylococcus aureus nasal carriage, for dermatitis in submariners during a submarine patrol. PARTICIPANTS AND METHODS:36 submariners undertaking a submerged 6-week patrol participated in the study. Severity of dermatitis and its impact wa...

    journal_title:BMJ open

    pub_type: 杂志文章

    doi:10.1136/bmjopen-2015-010975

    authors: Flaxman A,Allen E,Lindemann C,Yamaguchi Y,O'Shea MK,Fallowfield JL,Lindsay M,Gunner F,Knox K,Wyllie DH

    更新日期:2016-06-02 00:00:00

  • Birth cohort study on the effects of desert dust exposure on children's health: protocol of an adjunct study of the Japan Environment & Children's Study.

    abstract:INTRODUCTION:Desert dust is estimated to constitute about 35% of aerosol in the troposphere. Desertification, climatic variability and global warming all can contribute to increased dust formation. This study aims to examine possible health effects of desert dust exposure on pregnant women and their children. The purpo...

    journal_title:BMJ open

    pub_type: 杂志文章

    doi:10.1136/bmjopen-2014-004863

    authors: Kanatani KT,Adachi Y,Sugimoto N,Noma H,Onishi K,Hamazaki K,Takahashi Y,Ito I,Egawa M,Sato K,Go T,Kurozawa Y,Inadera H,Konishi I,Nakayama T,Japan Environment & Children's Study Group.

    更新日期:2014-06-23 00:00:00