448 results match your criteria Holt-Oram Syndrome


Familial dilated cardiomyopathy associated with pathogenic TBX5 variants: Expanding the cardiac phenotype associated with Holt-Oram syndrome.

Am J Med Genet A 2020 May 25. Epub 2020 May 25.

West of Scotland Clinical Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK.

Holt-Oram syndrome (HOS) is a rare, autosomal dominant disorder caused by heterozygous pathogenic variants in cardiac T-box transcription factor, TBX5. Classically, it is associated with upper limb malformations and variable cardiac abnormalities. Limb manifestations are considered to be invariably present, ranging in severity from limitation in movement, to triphalangeal thumbs, absent thumbs, shortened forearms, or phocomelia. Read More

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http://dx.doi.org/10.1002/ajmg.a.61635DOI Listing

Individual Limb Muscle Bundles Are Formed through Progressive Steps Orchestrated by Adjacent Connective Tissue Cells during Primary Myogenesis.

Cell Rep 2020 Mar;30(10):3552-3565.e6

Randall Centre for Cell and Molecular Biophysics, King's College London, Guy's Campus, London SE1 1UL, UK. Electronic address:

Although the factors regulating muscle cell differentiation are well described, we know very little about how differentiating muscle fibers are organized into individual muscle tissue bundles. Disruption of these processes leads to muscle hypoplasia or dysplasia, and replicating these events is vital in tissue engineering approaches. We describe the progressive cellular events that orchestrate the formation of individual limb muscle bundles and directly demonstrate the role of the connective tissue cells that surround muscle precursors in controlling these events. Read More

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http://dx.doi.org/10.1016/j.celrep.2020.02.037DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7068676PMC

Asymptomatic phaeochromocytoma in a patient with Holt-Oram syndrome: a case report.

Eur Heart J Case Rep 2019 Dec 9;3(4):1-5. Epub 2019 Nov 9.

National University Health System, 5 Lower Kent Ridge Road, Singapore 119074, Singapore.

Background: Holt-Oram syndrome (HOS) is a rare congenital disease that affects the heart and upper limbs. Phaeochromocytoma, a catecholamine-secreting tumour, is a rare neuroendocrine disorder. We present an interesting case presentation of these two rare disorders in a patient who was asymptomatic for phaeochromocytoma. Read More

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http://dx.doi.org/10.1093/ehjcr/ytz206DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7026609PMC
December 2019

Radial Ray Malformation.

Am J Obstet Gynecol 2019 12;221(6):B16-B18

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http://dx.doi.org/10.1016/j.ajog.2019.09.024DOI Listing
December 2019

Growing up with a rare genetic disease: an interpretative phenomenological analysis of living with Holt-Oram syndrome.

Disabil Rehabil 2019 Dec 1:1-8. Epub 2019 Dec 1.

Center of Clinical Psychology, Psychopathology and Psychosomatic Research, Université Libre de Bruxelles, Bruxelles, Belgique.

Holt-Oram syndrome (HOS) is a rare genetic disease characterized by variable radial upper limb and cardiac defects. The aim of this research was to shed light on people's subjective perceptions of their diseases, how these perceptions provide meaning, and the consequences the syndrome can have in daily life and across all life stages. Semistructured interviews with ten participants diagnosed with HOS were conducted in France and analyzed using interpretative phenomenological analysis. Read More

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http://dx.doi.org/10.1080/09638288.2019.1697763DOI Listing
December 2019

HDAC4 and 5 repression of TBX5 is relieved by protein kinase D1.

Sci Rep 2019 11 29;9(1):17992. Epub 2019 Nov 29.

School of Life Sciences, Queen's Medical Centre, University of Nottingham, Nottingham, NG7 2UH, UK.

TBX5 is a T-box family transcription factor that regulates heart and forelimb development in vertebrates and functional deficiencies in this protein result in Holt-Oram syndrome. Recently, we have shown that acetylation of TBX5 potentiates its activity and is important for heart and limb development. Here we report that class II histone deacetylases HDAC4 and HDAC5 associate with TBX5 and repress its role in cardiac gene transcription. Read More

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http://dx.doi.org/10.1038/s41598-019-54312-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6884511PMC
November 2019

miR-182-5p is an evolutionarily conserved Tbx5 effector that impacts cardiac development and electrical activity in zebrafish.

Cell Mol Life Sci 2019 Nov 4. Epub 2019 Nov 4.

Institute of Clinical Physiology, National Research Council, IFC via Moruzzi 1, 56124, Pisa, Italy.

To dissect the TBX5 regulatory circuit, we focused on microRNAs (miRNAs) that collectively contribute to make TBX5 a pivotal cardiac regulator. We profiled miRNAs in hearts isolated from wild-type, CRE, Tbx5and Tbx5 mice using a Next Generation Sequencing (NGS) approach. TBX5 deficiency in cardiomyocytes increased the expression of the miR-183 cluster family that is controlled by Kruppel-like factor 4, a transcription factor repressed by TBX5. Read More

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http://dx.doi.org/10.1007/s00018-019-03343-7DOI Listing
November 2019
3 Reads
5.808 Impact Factor

Holt-Oram Syndrome: Hands are the Clue to the Diagnosis.

Int J Appl Basic Med Res 2019 Oct-Dec;9(4):248-250. Epub 2019 Oct 11.

Department of Cardiology, Advanced Cardiac Centre, PGIMER, Chandigarh, India.

Holt-Oram syndrome or heart-hand syndrome consists of phenotypic and genotypic abnormalities. It is characterized by abnormalities of upper limbs and congenital cardiac defects. It is an autosomal dominant disorder due to a mutation in TBX5 gene located on chromosome 12, but sporadic cases have also been reported. Read More

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http://dx.doi.org/10.4103/ijabmr.IJABMR_298_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6822328PMC
October 2019
2 Reads

Tbx5 inhibits hedgehog signaling in determination of digit identity.

Hum Mol Genet 2020 Jun;29(9):1405-1416

Department of Biomedical Sciences, University of North Dakota, Grand Forks, ND 58202, USA.

Dominant TBX5 mutation causes Holt-Oram syndrome (HOS), which is characterized by limb defects in humans, but the underlying mechanistic basis is unclear. We used a mouse model with Tbx5 conditional knockdown in Hh-receiving cells (marked by Gli1+) during E8 to E10.5, a previously established model to study atrial septum defects, which displayed polydactyly or hypodactyly. Read More

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http://dx.doi.org/10.1093/hmg/ddz185DOI Listing
June 2020
4 Reads

Novel compound heterozygous TBX5 variants may induce hypoplastic left heart syndrome.

Pediatr Int 2019 Jun 18;61(6):607-609. Epub 2019 Jun 18.

Department of Pediatrics, University of Toyama, Toyama, Japan.

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http://dx.doi.org/10.1111/ped.13854DOI Listing
June 2019
6 Reads

Quantitative anatomy of the primary ossification center of the radial shaft in human fetuses.

Surg Radiol Anat 2019 Aug 2;41(8):901-909. Epub 2019 May 2.

Department of Otolaryngology and Oncology, The Ludwik Rydygier Collegium Medicum in Bydgoszcz, The Nicolaus Copernicus University in Toruń, Toruń, Poland.

Purpose: The medical literature still lacks studies on the size of the radial shaft primary ossification center, thus preventing us from potentially relevant data in diagnosing skeletal dysplasias, i.e., TAR syndrome, VATER syndrome, Holt-Oram syndrome, Fanconi anemia and Edwards syndrome, frequently characterized by disrupted or retarded fetal growth. Read More

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http://link.springer.com/10.1007/s00276-019-02247-2
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http://dx.doi.org/10.1007/s00276-019-02247-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6620237PMC
August 2019
19 Reads

Possible Holt-Oram Syndrome: Missed Prenatal Diagnosis and Sub-Optimal Management in a Poor-Resourced Hospital

Balkan Med J 2019 05 15;36(3):192-193. Epub 2019 Mar 15.

Department of Emergency Medicine, Medway NHS Foundation Trust, Kent, United Kingdom

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http://dx.doi.org/10.4274/balkanmedj.galenos.2019.2018.12.48DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6528524PMC
May 2019
6 Reads

Reconstruction of A Type IIIB Hypoplastic Thumb with A Huber Opposition Transfer in A Five-Year-Old Girl: Redefining Surgical Treatment.

World J Plast Surg 2019 Jan;8(1):97-105

Department of Radiology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA.

Thumb hypoplasia, a congenital deficiency of bony and soft tissue of thumb, is often associated with systemic syndromes like Holt-Oram syndrome, and is the second most common thumb anomaly after duplicated thumb. It has traditionally been classified into six categories, which help guide treatment including reconstruction versus pollicization (transfer of the index finger to thumb). Amputation of the thumb and pollicization is the traditional treatment for a IIIB hypoplastic thumb. Read More

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http://dx.doi.org/10.29252/wjps.8.1.97DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6409146PMC
January 2019
6 Reads

Modeling human point mutation diseases in with a modified CRISPR/Cas9 system.

FASEB J 2019 06 7;33(6):6962-6968. Epub 2019 Mar 7.

Guangdong Provincial Key Laboratory of Cell Microenvironment and Disease Research and.

Precise single-base editing in would greatly expand the utility of this true diploid frog for modeling human genetic diseases caused by point mutations. Here, we report the efficient conversion of C-to-T or G-to-A in using the rat apolipoprotein B mRNA editing enzyme catalytic subunit 1-XTEN-clustered regularly interspaced short palindromic repeat-associated protein 9 (Cas9) nickase-uracil DNA glycosylase inhibitor-nuclear localization sequence base editor [base editor 3 (BE3)]. Coinjection of guide RNA and the Cas9 mutant complex mRNA into 1-cell stage embryos caused precise C-to-T or G-to-A substitution in 14 out of 19 tested sites with efficiencies of 5-75%, which allowed for easy establishment of stable lines. Read More

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https://www.fasebj.org/doi/10.1096/fj.201802661R
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http://dx.doi.org/10.1096/fj.201802661RDOI Listing
June 2019
36 Reads

Fetal akinesia deformation sequence, arthrogryposis multiplex congenita, and bilateral clubfeet: Is motor assessment of additional value for in utero diagnosis? A 10-year cohort study.

Prenat Diagn 2019 02 7;39(3):219-231. Epub 2019 Feb 7.

Department of Obstetrics and Gynaecology, Amsterdam Movement Sciences, Amsterdam University Medical Centre, VUmc, Amsterdam, the Netherlands.

Objective: The diagnosis of fetal akinesia deformation sequence (FADS) is a challenge. Motor assessment is of additional value to advanced ultrasound examinations (AUE) for in utero FADS diagnosis before 24 weeks of gestation.

Methods: All consecutive fetuses with greater than or equal to two contractures on the 20 week structural anomaly scan (2007-2016) were included. Read More

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http://dx.doi.org/10.1002/pd.5411DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6593723PMC
February 2019
8 Reads

An Unusual Finding of a Double Orifice Mitral Valve in a Patient With Holt-Oram Syndrome.

Heart Lung Circ 2019 Apr 10;28(4):e99-e100. Epub 2018 Dec 10.

MonashHeart, Monash Health, Melbourne, Vic, Australia.

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http://dx.doi.org/10.1016/j.hlc.2018.11.017DOI Listing
April 2019
8 Reads

Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants.

Eur J Hum Genet 2019 03 14;27(3):360-368. Epub 2018 Dec 14.

CHU Lille, Clinique de Génétique, 59000, Lille, France.

Holt-Oram syndrome (HOS) is an autosomal dominant condition characterised by the association of congenital heart defect (CHD), with or without rhythm disturbances and radial defects, due to TBX5 variants. The diagnosis is challenged by the variability of expression and the large phenotypic overlap with other conditions, like Okihiro syndrome, TAR syndrome or Fanconi disease. We retrospectively reviewed 212 patients referred for suspicion of HOS between 2002 and 2014, who underwent TBX5 screening. Read More

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http://dx.doi.org/10.1038/s41431-018-0303-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6460573PMC
March 2019
23 Reads

A novel de novo mutation in a patient with Holt-Oram syndrome.

Appl Clin Genet 2018 23;11:157-162. Epub 2018 Nov 23.

Center for Research on Congenital Anomalies and Rare Diseases (CIACER), Department of Basic Medical Sciences, Universidad Icesi, Cali, Valle del Cauca, Colombia,

Holt-Oram syndrome (HOS) is an autosomal dominant disorder characterized by congenital cardiac defects and congenital deformities of the upper limbs. Herein, we report the case of a 2-year-old patient presenting with clinical diagnostic criteria of HOS with interatrial and interventricular communication associated with hip dysplasia and upper limb reduction composed of radial ray anomaly. A novel de novo, potentially pathogenic variant in the gene at NM_181486. Read More

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http://dx.doi.org/10.2147/TACG.S183418DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6260184PMC
November 2018
11 Reads

A transcriptomics analysis of the Tbx5 paralogues in zebrafish.

PLoS One 2018 10;13(12):e0208766. Epub 2018 Dec 10.

Department of Organismal Biology and Anatomy, University of Chicago, Chicago, Illinois, United States of America.

TBX5 is essential for limb and heart development. Mutations in TBX5 are associated with Holt-Oram syndrome in humans. Due to the teleost specific genome duplication, zebrafish have two copies of TBX5: tbx5a and tbx5b. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0208766PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6287840PMC
May 2019
8 Reads

Holt-Oram Syndrome in a Patient with Crohn's Disease: a Rare Case Report and Literature Review.

Med Arch 2018 Oct;72(4):292-294

Second Department of Surgery, Aretaieion University Hospital, National and Kapodistrian University of Athens, Athens, Greece.

Introduction: Holt-Oram syndrome (HOS) is an uncommon autosomal dominant disorder defined by congenital cardiac defects, some anatomical deformities in the upper limb and conduction abnormalities. Sequence alteration of TBX5 gene located on chromosome 12 has associated with HOS.

Case Report: We present the case of a 26-year-old female with known upper limb alteration and ventricular septal defect who later in life developed Crohn's disease. Read More

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http://dx.doi.org/10.5455/medarh.2018.72.292-294DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6194948PMC
October 2018
33 Reads

Evolutionarily conserved - pathway orchestrates cardiopulmonary development.

Proc Natl Acad Sci U S A 2018 11 23;115(45):E10615-E10624. Epub 2018 Oct 23.

Department of Pediatrics, University of Chicago, Chicago, IL 60637;

Codevelopment of the lungs and heart underlies key evolutionary innovations in the transition to terrestrial life. Cardiac specializations that support pulmonary circulation, including the atrial septum, are generated by second heart field (SHF) cardiopulmonary progenitors (CPPs). It has been presumed that transcription factors required in the SHF for cardiac septation, e. Read More

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http://dx.doi.org/10.1073/pnas.1811624115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6233116PMC
November 2018
49 Reads

Holt-Oram Syndrome With Multiple Cardiac Abnormalities.

Cardiol Res 2018 Oct 7;9(5):324-329. Epub 2018 Oct 7.

Medical Genetics Department, "Grigore T. Popa" University of Medicine and Pharmacy, Iasi, Romania.

Holt-Oram syndrome (HOS) is a rare monogenic disorder characterized by upper limb abnormalities, congenital heart defects and/or conduction abnormalities. It is determined by mutations of gene and is inherited in an autosomal dominant manner. Penetrance is complete, but variable expressivity is present, which gives sometimes diagnostic difficulties. Read More

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http://dx.doi.org/10.14740/cr767wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6188042PMC
October 2018
11 Reads

Electrical disorders in atrial septal defect: genetics and heritability.

J Thorac Dis 2018 Sep;10(Suppl 24):S2848-S2853

Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science, Ohtsu, Shiga, Japan.

Atrial septal defect (ASD) is one of the most common types of congenital heart diseases (CHDs). Most ASDs occur sporadically, but some are inherited and associated with cardiac conduction defects such as atrioventricular block (AVB) or bundle branch block. Mutations in genes encoding transcription factor gene and , were found in Holt-Oram syndrome (HOS) and ASD with atrioventricular (AV) conduction defects, respectively. Read More

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http://dx.doi.org/10.21037/jtd.2018.02.53DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6174139PMC
September 2018
13 Reads

Postmortem Diagnosis of Heart-hand Syndrome Associated With a 7p22.1p22.3 Deletion in a 16-week-old Fetus.

Pediatr Dev Pathol 2019 Mar-Apr;22(2):146-151. Epub 2018 Sep 7.

2 Service d'anatomopathologie, CHU Charles Nicolle, Rouen, France.

We report a male fetus with a 6.8 Mb deletion on chromosome 7p22.1p22. Read More

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http://journals.sagepub.com/doi/10.1177/1093526618799293
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http://dx.doi.org/10.1177/1093526618799293DOI Listing
April 2019
13 Reads

Thalidomide promotes degradation of SALL4, a transcription factor implicated in Duane Radial Ray syndrome.

Elife 2018 08 1;7. Epub 2018 Aug 1.

Department of Cancer Biology, Dana-Farber Cancer Institute, Boston, United States.

In historical attempts to treat morning sickness, use of the drug thalidomide led to the birth of thousands of children with severe birth defects. Despite their teratogenicity, thalidomide and related IMiD drugs are now a mainstay of cancer treatment; however, the molecular basis underlying the pleiotropic biology and characteristic birth defects remains unknown. Here we show that IMiDs disrupt a broad transcriptional network through induced degradation of several CH zinc finger transcription factors, including SALL4, a member of the -like family of developmental transcription factors. Read More

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http://dx.doi.org/10.7554/eLife.38430DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6156078PMC
August 2018
53 Reads

T-box genes and retinoic acid signaling regulate the segregation of arterial and venous pole progenitor cells in the murine second heart field.

Hum Mol Genet 2018 11;27(21):3747-3760

Aix-Marseille Univ, CNRS UMR 7288, IBDM, Marseille, France.

The arterial and venous poles of the mammalian heart are hotspots of congenital heart defects (CHD) such as those observed in 22q11.2 deletion (or DiGeorge) and Holt-Oram syndromes. These regions of the heart are derived from late differentiating cardiac progenitor cells of the Second Heart Field (SHF) located in pharyngeal mesoderm contiguous with the elongating heart tube. Read More

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http://dx.doi.org/10.1093/hmg/ddy266DOI Listing
November 2018
56 Reads

Post-transcriptional Modulation of Sphingosine-1-Phosphate Receptor 1 by miR-19a Affects Cardiovascular Development in Zebrafish.

Front Cell Dev Biol 2018 5;6:58. Epub 2018 Jun 5.

Institute of Clinical Physiology, National Research Council, Pisa, Italy.

Sphingosine-1-phosphate is a bioactive lipid and a signaling molecule integrated into many physiological systems such as differentiation, proliferation and migration. In mammals S1P acts through binding to a family of five trans-membrane, G-protein coupled receptors (S1PRs) whose complex role has not been completely elucidated. In this study we use zebrafish, in which seven have been identified, to investigate the role of . Read More

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http://dx.doi.org/10.3389/fcell.2018.00058DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5996577PMC
June 2018
10 Reads

Clinical and epidemiological features of Heart-Hand Syndrome: a hospital-based study in China.

Sci Rep 2018 05 31;8(1):8469. Epub 2018 May 31.

Department of hand surgery, Beijing Ji Shui Tan Hospital, Xin jie kou dong jie 31, Xi Cheng Qu, 100035, Beijing, China.

Heart-hand syndrome (HHS) is a clinically and genetically heterogeneous disorder characterized by the co-occurrence of a congenital cardiac disease and an upper limb malformation. This study revealed the clinical and epidemiological features of HHS in China. The study was based on patients with congenital upper limb malformation treated in Beijing Ji Shui Tan hospital from October 1, 2013 to October 1, 2016. Read More

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http://dx.doi.org/10.1038/s41598-018-26727-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5981449PMC
May 2018
36 Reads

Holt-Oram syndrome in two families diagnosed with left ventricular noncompaction and conduction disease.

HeartRhythm Case Rep 2018 Apr 13;4(4):146-151. Epub 2018 Feb 13.

Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Newtown, Australia.

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http://dx.doi.org/10.1016/j.hrcr.2017.12.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5944048PMC
April 2018
10 Reads
1 Citation

Anti-apoptotic effects of IGF-I on mortality and dysmorphogenesis in tbx5-deficient zebrafish embryos.

BMC Dev Biol 2018 03 5;18(1). Epub 2018 Mar 5.

Institutes of Clinical Medicine, School of Medicine, National Yang-Ming University, Taipei, Taiwan, Republic of China.

Background: Tbx5 deficiency in zebrafish causes several abnormal phenotypes of the heart and pectoral fins. It has been reported that exogenous human growth hormone can enhance expression of downstream mediators in the growth hormone and insulin-like growth factor I (IGF-I) pathway and partially restore dysmorphogenesis in tbx5 morphants. This study aimed to further evaluate the effects of IGF-I on cell apoptosis and dysmorphogenesis in zebrafish embryos deficient for tbx5. Read More

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http://dx.doi.org/10.1186/s12861-017-0161-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5836385PMC
March 2018
23 Reads

Genetic Analyses Identified a SALL4 Gene Mutation Associated with Holt-Oram Syndrome.

DNA Cell Biol 2018 Apr 20;37(4):398-404. Epub 2018 Feb 20.

1 Department of Pediatric Cardiology, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University , Shanghai, China .

Holt-Oram syndrome (HOS) is an autosomal dominant disorder, which is characterized by deformities of upper limbs and congenital heart defects. Alterations of TBX5 gene have been identified to be the leading cause of HOS, while some cases could not be explained by TBX5 mutations. In our study, we preliminarily diagnosed a newborn baby, who had Tetralogy of Fallot, thumb agenesis, facial dysplasia, and right ear canal malformation, as HOS. Read More

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http://dx.doi.org/10.1089/dna.2017.4094DOI Listing
April 2018
13 Reads

Perspective: Is Random Monoallelic Expression a Contributor to Phenotypic Variability of Autosomal Dominant Disorders?

Front Genet 2017 29;8:191. Epub 2017 Nov 29.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, United States.

Several factors have been proposed as contributors to interfamilial and intrafamilial phenotypic variability in autosomal dominant disorders, including allelic variation, modifier genes, environmental factors and complex genetic and environmental interactions. However, regardless of the similarity of genetic background and environmental factors, asymmetric limb or trunk anomalies in a single individual and variable manifestation between monozygotic twins have been observed, indicating other mechanisms possibly involved in expressivity of autosomal dominant diseases. One such example is Holt-Oram syndrome (HOS), which is characterized by congenital cardiac defects and forelimb anomalies, mainly attributed to mutations in the gene. Read More

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http://dx.doi.org/10.3389/fgene.2017.00191DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5718016PMC
November 2017
11 Reads

Acetylation of TBX5 by KAT2B and KAT2A regulates heart and limb development.

J Mol Cell Cardiol 2018 01 22;114:185-198. Epub 2017 Nov 22.

School of Life Sciences, Queen's Medical Centre, University of Nottingham, Nottingham NG7 2UH, UK. Electronic address:

TBX5 plays a critical role in heart and forelimb development. Mutations in TBX5 cause Holt-Oram syndrome, an autosomal dominant condition that affects the formation of the heart and upper-limb. Several studies have provided significant insight into the role of TBX5 in cardiogenesis; however, how TBX5 activity is regulated by other factors is still unknown. Read More

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http://dx.doi.org/10.1016/j.yjmcc.2017.11.013DOI Listing
January 2018
13 Reads

Prenatal diagnosis of complex phenotype in a 13-week-old fetus with an interstitial multigene deletion 20q13.13.-q13.2 by chromosomal microarray.

Eur J Med Genet 2017 Nov 12;60(11):589-594. Epub 2017 Aug 12.

Children's Hospital Srebrnjak, Zagreb, Croatia; Faculty of Medicine, Josip Juraj Strossmayer University of Osijek, Osijek, Croatia.

We report the first trimester three-dimensional ultrasonographic findings in a 13-week-old fetus with complex phenotype and a de novo 4.7 Mb multigene deletion encompassing chromosome region 20q13.13-q13. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S17697212173004
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http://dx.doi.org/10.1016/j.ejmg.2017.08.010DOI Listing
November 2017
27 Reads
1.490 Impact Factor

Holt-Oram Syndrome: A Rare Variant.

Iran J Med Sci 2017 Jul;42(4):416-419

Department of Neonatology and Paediatric Medicine, PGIMER, Dr. RML Hospital, New Delhi, India.

Holt-Oram syndrome is an autosomal dominant disorder, characterised by skeletal abnormalities of the upper limb associated with congenital heart defect, mainly atrial and ventricular septal defects. Skeletal defects exclusively affect the upper limbs in the preaxial radial ray distribution and are bilateral and asymmetrical. They range from clinodactyly, absent or digitalised thumb, hypoplastic or absent radii, and first metacarpal to hypoplastic ulna and carpal bone anomalies. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5523052PMC
July 2017
20 Reads

MicroRNAs: pleiotropic players in congenital heart disease and regeneration.

J Thorac Dis 2017 Mar;9(Suppl 1):S64-S81

Division of Experimental Surgery, Department of Cardiovascular Surgery, German Heart Center Munich, Technische Universität München, Munich, Germany.

Congenital heart disease (CHD) is the leading cause of infant death, affecting approximately 4-14 live births per 1,000. Although surgical techniques and interventions have improved significantly, a large number of infants still face poor clinical outcomes. MicroRNAs (miRs) are known to coordinately regulate cardiac development and stimulate pathological processes in the heart, including fibrosis or hypertrophy and impair angiogenesis. Read More

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http://dx.doi.org/10.21037/jtd.2017.03.149DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5383561PMC
March 2017
16 Reads

T-box family of transcription factor-TBX5, insights in development and disease.

Am J Transl Res 2017 15;9(2):442-453. Epub 2017 Feb 15.

Department of Hematological Laboratory Science, Jiangsu Key Laboratory of Medical Science and Laboratory Medicine, School of Medicine, Jiangsu University Zhenjiang 212013, Jiangsu, China.

The T-box gene family refers to a group of transcription factors that share a highly conserved, sequence-specific DNA-binding domain (T-box) containing around 180-amino acids. According to HUGO gene nomenclature committee (HGNC), there are 18 T-box family members. These T-box genes have been implicated essential roles during embryogenesis and cardiac development, given their specific expression pattern in developing mammalian heart for several T-box genes, including . Read More

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http://www.ajtr.org/files/ajtr0039839.pdf
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5340680PMC
February 2017
33 Reads

A Comprehensive TALEN-Based Knockout Library for Generating Human-Induced Pluripotent Stem Cell-Based Models for Cardiovascular Diseases.

Circ Res 2017 May 28;120(10):1561-1571. Epub 2017 Feb 28.

From the Stanford Cardiovascular Institute (I.K., V.T., J.L., S.D., I.I., M.A., R.S., H.W., N.M., N.-Y.S., T.S., N.W., K.D.W., E.M., J.C.W.), Department of Cardiothoracic Surgery (I.K.), Division of Cardiovascular Medicine, Department of Medicine (V.T., J.C.W.), CA; Institute of Stem Cell Biology and Regenerative Medicine (D.A.C., V.S., J.C.W.), Departments of Pediatrics (A.H., M.H.P.), Pathology (K.D.W.), and Obstetrics and Gynecology (V.S.), Stanford University School of Medicine, CA; Berlin Institute of Health, Germany (S.D.); and Max Delbrueck Center, Berlin, Germany (S.D.).

Rationale: Targeted genetic engineering using programmable nucleases such as transcription activator-like effector nucleases (TALENs) is a valuable tool for precise, site-specific genetic modification in the human genome.

Objective: The emergence of novel technologies such as human induced pluripotent stem cells (iPSCs) and nuclease-mediated genome editing represent a unique opportunity for studying cardiovascular diseases in vitro.

Methods And Results: By incorporating extensive literature and database searches, we designed a collection of TALEN constructs to knockout 88 human genes that are associated with cardiomyopathies and congenital heart diseases. Read More

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http://dx.doi.org/10.1161/CIRCRESAHA.116.309948DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5429194PMC
May 2017
53 Reads
11.019 Impact Factor

Quantitative anatomy of the growing clavicle in the human fetus: CT, digital image analysis, and statistical study.

Surg Radiol Anat 2017 Aug 10;39(8):827-835. Epub 2017 Feb 10.

Department of Normal Anatomy, The Ludwik Rydygier Collegium Medicum in Bydgoszcz, 1 Łukasiewicza Street, Bydgoszcz, 85-821, Poland.

Purposes: Knowledge of dimensions of fetal long bones is useful in both the assessment of fetal growth and early detection of inherited defects. Measurements of the fetal clavicle may facilitate detection of numerous defects, e.g. Read More

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http://dx.doi.org/10.1007/s00276-017-1821-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5569133PMC
August 2017
14 Reads

KLF13 is a genetic modifier of the Holt-Oram syndrome gene TBX5.

Hum Mol Genet 2017 03;26(5):942-954

Molecular Genetics and Cardiac Regeneration Laboratory, Department of Biochemistry, Microbiology and Immunology, University of Ottawa, Ottawa, K1N 6N5, Canada.

TBX5, a member of the T-box family of transcription factors, is a dosage sensitive regulator of heart development. Mutations in TBX5 are responsible for Holt-Oram Syndrome, an autosomal dominant disease with variable and partially penetrant cardiac defects suggestive of the existence of genetic and environmental modifiers. KLF13, a member of the Krüppel-like family of zinc finger proteins is co-expressed with TBX5 in several cardiac cells including atrial cardiomyocytes and cells of the interatrial septum. Read More

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http://dx.doi.org/10.1093/hmg/ddx009DOI Listing
March 2017
15 Reads

Holt-Oram syndrome: Anesthetic challenges and safe outcome.

Ann Card Anaesth 2017 Jan-Mar;20(1):110-111

Department of Anesthesiology, Critical Care and Pain, Tata Memorial Hospital, Mumbai, Maharashtra, India.

Holt-Oram syndrome (HOS) is an autosomal dominant disease with skeletal and cardiac manifestations. We here are presenting a 31-year-old man and a diagnosed case of HOS, with an ulceroproliferative lesion on lateral border of the tongue, was posted for wide excision of lesion with primary closure and left side radical neck dissection. Read More

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http://dx.doi.org/10.4103/0971-9784.197849DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5290681PMC
March 2017
9 Reads

TBX5: A Key Regulator of Heart Development.

Curr Top Dev Biol 2017 28;122:195-221. Epub 2016 Sep 28.

University of Chicago, Chicago, IL, United States. Electronic address:

TBX5 is a member of the T-box transcription factor family and is primarily known for its role in cardiac and forelimb development. Human patients with dominant mutations in TBX5 are characterized by Holt-Oram syndrome, and show defects of the cardiac septa, cardiac conduction system, and the anterior forelimb. The range of cardiac defects associated with TBX5 mutations in humans suggests multiple roles for the transcription factor in cardiac development and function. Read More

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http://dx.doi.org/10.1016/bs.ctdb.2016.08.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5371404PMC
May 2017
6 Reads

Tbx5 Buffers Inherent Left/Right Asymmetry Ensuring Symmetric Forelimb Formation.

PLoS Genet 2016 Dec 19;12(12):e1006521. Epub 2016 Dec 19.

Division of Developmental Biology, MRC-National Institute for Medical Research, Mill Hill, London, England.

The forelimbs and hindlimbs of vertebrates are bilaterally symmetric. The mechanisms that ensure symmetric limb formation are unknown but they can be disrupted in disease. In Holt-Oram Syndrome (HOS), caused by mutations in TBX5, affected individuals have left-biased upper/forelimb defects. Read More

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http://dx.doi.org/10.1371/journal.pgen.1006521DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5215935PMC
December 2016
11 Reads

Clinical expression of Holt-Oram syndrome on the basis of own clinical experience considering prenatal diagnosis.

Ginekol Pol 2016 ;87(10):706-710

Department of Neonatology, School of Medicine in Katowice, Medical University of Silesia in Katowice..

Objectives: Holt-Oram syndrome manifests with defects of upper limbs, pectoral girdle and cardiovascular system. The aim of this paper was to present complex clinical picture of the syndrome and its variable expression on the example of the family diagnosed genetically on the neonatal ward, after proband's prenatal examination.

Maretial And Methods: Nine family members were tested for TBX5 gene mutation. Read More

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http://dx.doi.org/10.5603/GP.2016.0072DOI Listing
July 2018
12 Reads

Arterial dysgenesis and limb defects: Clinical and experimental examples.

Reprod Toxicol 2017 06 20;70:21-29. Epub 2016 Oct 20.

Departments of Orthopedic Surgery, Cellular and Developmental Biology, and Pediatrics, SUNY Upstate Medical University, 1133 Weiskotten Hall, 750 E Adams St., Syracuse, NY 13203, USA.

Limb malformations are amongst the most common and visible birth effects. Causes have been purported to include genetic aberrations as well as teratogens, such as thalidomide. Here we review the evidence for vascular disruption in the genesis of limb malformations through abnormal arterial transitioning and from events such as amniocentesis, uterine constriction, and through teratogen exposure. Read More

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http://dx.doi.org/10.1016/j.reprotox.2016.10.005DOI Listing
June 2017
9 Reads

Life-threatening cardiac episode in a Polish patient carrying contiguous gene microdeletion of the and the genes.

Springerplus 2016 21;5(1):1638. Epub 2016 Sep 21.

Department of Medical Genetics, Poznan University of Medical Sciences, Fredry 10, 61-701 Poznan, Poland ; NZOZ Center for Medical Genetics, GENESIS ul. Grudzieniec 4, 60-601 Poznan, Poland.

Holt-Oram syndrome (HOS) features radial ray hypoplasia, heart defect and cardiac conduction impairment. Ulnar-mammary syndrome (UMS) characterizes congenital defects of the ulnar side of the upper limbs, underdevelopment of apocrine glands including hypoplasia and the dysfunction of mammary glands, hypogonadism and obesity. Inheritance of both conditions is autosomal dominant, mutations or deletions are found in the and gene, respectively. Read More

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http://dx.doi.org/10.1186/s40064-016-3275-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5031565PMC
September 2016
38 Reads