434 results match your criteria Holt-Oram Syndrome


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

Balkan Med J 2019 Mar 15. 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

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

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

FASEB J 2019 Mar 7:fj201802661R. Epub 2019 Mar 7.

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

Precise single-base editing in Xenopus tropicalis 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 X. tropicalis 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)]. 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
March 2019
9 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 Feb 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
February 2019
3 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
1 Read

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

Eur J Hum Genet 2019 Mar 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
March 2019
2 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
4 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
December 2018
1 Read

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
14 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
19 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
3 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
7 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
21 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
24 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
4 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
5 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
13 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
6 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
8 Reads

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

J Mol Cell Cardiol 2018 Jan 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
5 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
20 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
9 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
9 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
7 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
18 Reads

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
8 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
8 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
4 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
1 Read

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
5 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
8 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
2 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
27 Reads

Coexisting urogenital anomaly and duodenal atresia in two atypical Holt-Oram syndrome.

J Indian Assoc Pediatr Surg 2016 Oct-Dec;21(4):193-195

Department of Medical Genetic, Faculty of Medicine, Afyon Kocatepe University, Afyonkarahisar, Turkey.

Holt-Oram syndrome (HOS) is a rare autosomal dominant disorder, characterized by upper limb dysplasia and congenital cardiac defect. We report two cases with HOS, first associated with renal agenesis, coronal hypospadias, urethral duplication and second associated with duodenal atresia and horseshoe kidney that have not been reported in English literature. Read More

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http://dx.doi.org/10.4103/0971-9261.186552DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4980884PMC
October 2016
6 Reads

A novel de novo TBX5 mutation in a patient with Holt-Oram syndrome leading to a dramatically reduced biological function.

Mol Genet Genomic Med 2016 Sep 14;4(5):557-67. Epub 2016 Jul 14.

Department of Cardiovascular SurgeryDivision of Experimental SurgeryGerman Heart Center Munich at the Technical University of MunichMunichGermany; DZHK (German Center for Cardiovascular Research) - partner site Munich Heart AllianceMunichGermany.

Background: The Holt-Oram syndrome (HOS) is an autosomal dominant disorder affecting 1/100.000 live births. It is defined by upper limb anomalies and congenital heart defects with variable severity. Read More

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http://dx.doi.org/10.1002/mgg3.234DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5023941PMC
September 2016
31 Reads

Holt-Oram syndrome because of the novel TBX5 mutation c.481A>C.

Clin Dysmorphol 2016 Oct;25(4):192-4

aDepartment of Medical Genetics, Dr Faruk Sükan Maternity and Pediatric Hospital, Konya bDepartment of Medical Genetics, İstanbul Faculty of Medicine, İstanbul University, İstanbul, Turkey.

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http://dx.doi.org/10.1097/MCD.0000000000000121DOI Listing
October 2016
9 Reads

Syndromic anorectal malformation associated with Holt-Oram syndrome, microcephaly, and bilateral corneal opacity: a case report.

J Med Case Rep 2016 Aug 5;10(1):216. Epub 2016 Aug 5.

Department of Obstetrics and Gynaecology, University of Calabar/University of Calabar Teaching Hospital (UCTH), Calabar, Cross River State, Nigeria.

Background: The occurrence of an anorectal malformation with Holt-Oram syndrome, microcephaly, and bilateral corneal opacity is rare and to the best of our knowledge has not previously been reported in the literature. Hence, there is a need to document our experience in this case and learn as much as possible from it.

Case Presentation: We present the case of a Nigerian female neonate with a postnatal diagnosis of syndromic anorectal malformation associated with Holt-Oram syndrome, microcephaly, and bilateral corneal opacity. Read More

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http://dx.doi.org/10.1186/s13256-016-1011-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4974687PMC
August 2016
4 Reads

Discovering miRNA Regulatory Networks in Holt-Oram Syndrome Using a Zebrafish Model.

Front Bioeng Biotechnol 2016 14;4:60. Epub 2016 Jul 14.

Laboratory of Integrative Systems Medicine (LISM), Institute of Informatics and Telematics (IIT), Institute of Clinical Physiology (IFC), National Research Council (CNR) , Pisa , Italy.

MicroRNAs (miRNAs) are small non-coding RNAs that play an important role in the post-transcriptional regulation of gene expression. miRNAs are involved in the regulation of many biological processes such as differentiation, apoptosis, and cell proliferation. miRNAs are expressed in embryonic, postnatal, and adult hearts, and they have a key role in the regulation of gene expression during cardiovascular development and disease. Read More

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http://dx.doi.org/10.3389/fbioe.2016.00060DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4943955PMC
July 2016
4 Reads

Congenital heart diseases and their association with the variant distribution features on susceptibility genes.

Clin Genet 2017 03 5;91(3):349-354. Epub 2016 Sep 5.

Department of Cardiovascular Surgery, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

Congenital heart disease (CHD), one of the causes of childhood morbidity and mortality, is mainly triggered by a combination of environmental and genetic factors. Several susceptible genes, such as NKX2-5, GATA4 and TBX5, have been reported as closely related to heart and vessel development. CHD subtypes are classified into diverse clinical phenotypes, such as atrial septal defects (ASD), ventricular septal defects (VSD), tetralogy of Fallot (TOF), and Holt-Oram syndrome (HOS). Read More

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http://dx.doi.org/10.1111/cge.12835DOI Listing
March 2017
6 Reads

Holt-Oram Syndrome Associated with Aortic Atresia: A Rare Association.

Heart Views 2016 Jan-Mar;17(1):27-9

Department of Paediatrics, Krishna Institute of Medical Sciences, Malkapur, Karad, Maharashtra, India.

Holt-Oram syndrome (HOS) is a rare autosomal dominant disorder that causes abnormalities of the upper limbs and heart. It is seen in 1:1, 00, 000 live births. It is linked to a single-gene TBX5 "protein-producing" mutation with gene map locus 12q24. Read More

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http://dx.doi.org/10.4103/1995-705X.182644DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4879802PMC
June 2016
2 Reads

A "Sleeping Beauty" With a "Heart-Hand": Kleine-Levin Syndrome Treated With Buproprion and Carbamazepine in a Patient With Holt-Oram Syndrome.

Clin EEG Neurosci 2017 Jul 18;48(4):270-271. Epub 2016 Apr 18.

2 Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal.

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http://dx.doi.org/10.1177/1550059416644087DOI Listing
July 2017
6 Reads

Holt Oram syndrome: a case report and review of the literature.

Clin Exp Obstet Gynecol 2016 ;43(1):137-9

Holt Oram syndrome is a rare autosomal dominant syndrome on average, of varying severity, which may result in heterogeneous pictures, predominantly with involvement of the bony segments of the upper limbs and the cardiovascular system. The syndrome is caused by mutations in two genes of the T-box (TBX5, 601 620 and TBX 3) located on the 12q24.1p. Read More

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May 2016
4 Reads

TBX5 loss-of-function mutation contributes to atrial fibrillation and atypical Holt-Oram syndrome.

Mol Med Rep 2016 May 24;13(5):4349-56. Epub 2016 Mar 24.

Department of Cardiology, Shanghai Chest Hospital, Shanghai Jiao Tong University, Shanghai 200030, P.R. China.

Previous genome-wide association studies have demonstrated that single nucleotide polymorphisms in T‑box (TBX)5 are associated with increased susceptibility to atrial fibrillation (AF), and a recent study has causally linked a TBX5 mutation to atypical Holt-Oram syndrome and paroxysmal AF. However, the prevalence and spectrum of TBX5 mutations in patients with AF remain to be elucidated. In the present study, a cohort of 190 unrelated patients with idiopathic AF were prospectively recruited, with 400 unrelated healthy individuals recruited as controls. Read More

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http://dx.doi.org/10.3892/mmr.2016.5043DOI Listing
May 2016
15 Reads

A novel mutated sequence in the T-box transcription factor-5 (TBX-5) gene (c.241A>T) in Holt-Oram syndrome.

J Turk Ger Gynecol Assoc 2016 14;17(1):55-7. Epub 2015 Jul 14.

Clinic of Perinatology, Zekai Tahir Burak Women's Health Care Training and Research Hospital, Ankara, Turkey.

We report a case of a 31-year-old pregnant woman who was admitted to our perinatology outpatient clinic because of a fetal ventricular septal defect and limb reduction in the upper extremities of fetus revealed by ultrasonographic investigation diagnosed in the 16(th) week of gestation. First child of the family was diagnosed with Holt-Oram syndrome who had atrial septal defect and upper limb anomalies, whereas the father was documented to have arrhythmia and shortening of upper limbs. The pregnancy was terminated in the 16(th) week of gestation with the consent of the family. Read More

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http://dx.doi.org/10.5152/jtgga.2015.15233DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4794294PMC
March 2016
7 Reads

Is there a link between Holt-Oram Syndrome and 'Mardini-Nyhan' association? - need for further research.

Authors:
K P Sawardekar

Clin Genet 2016 09 11;90(3):284-7. Epub 2016 May 11.

Department of Pediatrics & Neonatology, Nizwa Hospital, Sultanate of Oman.

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http://dx.doi.org/10.1111/cge.12777DOI Listing
September 2016
8 Reads

Role of Genetic Factors in the Pathogenesis of Radial Deficiencies in Humans.

Curr Genomics 2015 Aug;16(4):264-78

Medical Genetics, Department of Medical and Surgical Sciences, University Hospital of Modena, Italy;

Radial deficiencies (RDs), defined as under/abnormal development or absence of any of the structures of the forearm, radial carpal bones and thumb, occur with a live birth incidence ranging from 1 out of 30,000 to 1 out 6,000 newborns and represent about one third/one fourth of all the congenital upper limb anomalies. About half of radial disorders have a mendelian cause and pattern of inheritance, whereas the remaining half appears sporadic with no known gene involved. In sporadic forms certain anomalies, such as thumb or radial hypoplasia, may occur either alone or in association with systemic conditions, like vertebral abnormalities or renal defects. Read More

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http://dx.doi.org/10.2174/1389202916666150528000412DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4765521PMC
August 2015
7 Reads

Prevalence and Spectrum of TBX5 Mutation in Patients with Lone Atrial Fibrillation.

Int J Med Sci 2016 23;13(1):60-7. Epub 2016 Jan 23.

4. Department of Cardiology, Shanghai Chest Hospital, Shanghai Jiao Tong University, 241 West Huaihai Road, Shanghai 200030, China;; 6. Department of Cardiovascular Research Laboratory, Shanghai Chest Hospital, Shanghai Jiao Tong University, 241 West Huaihai Road, Shanghai 200030, China;; 7. Department of Central Laboratory, Shanghai Chest Hospital, Shanghai Jiao Tong University, 241 West Huaihai Road, Shanghai 200030, China.

Atrial fibrillation (AF), the most common type of cardiac rhythm disturbance encountered in clinical practice, is associated with substantially increased morbidity and mortality. Aggregating evidence demonstrates that abnormal cardiovascular development is involved in the pathogenesis of AF. A recent study has revealed that the TBX5 gene, which encodes a T-box transcription factor key to cardiovascular development, was associated with AF and atypical Holt-Oram syndrome. Read More

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http://www.medsci.org/v13p0060.pdf
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http://dx.doi.org/10.7150/ijms.13264DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4747871PMC
October 2016
5 Reads

Absent Left Main Coronary Artery and Separate Ostia of Left Coronary System in a Patient with Holt-Oram Syndrome and Sinus Node Dysfunction.

Am J Case Rep 2016 Feb 17;17:93-6. Epub 2016 Feb 17.

Department of Cardiology, Good Samaritan Hospital, Wright State University Boonshoft School of Medicine, Dayton, OH, USA.

Background: Holt-Oram syndrome (HOS) is a rare but significant syndrome consisting of structural heart defects, conduction abnormalities, and upper extremity anomalies. It was first described in the British Heart Journal in 1960 by Mary Holt and Samuel Oram as a report of atrial septal defect, conduction disturbances, and hand malformations occurring in family members. Patients can present with heart blocks or symptoms of underlying congenital heart defects. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4763810PMC
February 2016
8 Reads