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Pediatr Cardiol 2019 Feb 7. Epub 2019 Feb 7.

Pediatric Cardiology, Monroe Carell Jr. Children's Hospital, Nashville, TN, USA.

DiGeorge syndrome (DGS) is commonly associated with both congenital heart disease (CHD) and immunologic abnormalities. While CHD may prompt consideration for heart transplantation (HTx), little is known about HTx management or outcomes in this group. The aim of this study was to describe the spectrum of patients with DGS who undergo HTx and report post-HTx outcomes. Read More

Ann Thorac Surg 2019 Feb 26;107(2):553-559. Epub 2018 Oct 26.

Department of Pediatrics, Indiana University School of Medicine, Riley Hospital for Children, Indianapolis, Indiana.

Background: Literature describing morbidity and mortality after truncus arteriosus repair is predominated by single-center reports. We created and analyzed a multicenter dataset to identify risk factors for late mortality and right ventricle-to-pulmonary artery (RV-PA) conduit reintervention for this patient population.

Methods: We retrospectively collected data on children who underwent repair of truncus arteriosus without concomitant arch obstruction at 15 centers between 2009 and 2016. Read More

Pediatrics 2019 Jan 25. Epub 2019 Jan 25.

Department of Pediatrics, University of California, San Francisco and Benioff Children's Hospital, San Francisco, California;

Objectives: Newborn screening for severe combined immunodeficiency (SCID) was instituted in California in 2010. In the ensuing 6.5 years, 3 252 156 infants in the state had DNA from dried blood spots assayed for T-cell receptor excision circles (TRECs). Read More

Hong Kong Med J 2019 Feb 18;25(1):6-12. Epub 2019 Jan 18.

Department of Obstetrics and Gynaecology, Prince of Wales Hospital, Shatin, Hong Kong.

Introduction: The aim of the present study was to calculate the prevalence of chromosomal abnormalities among antenatally diagnosed congenital heart diseases (CHDs), and the prevalence of 22q11.2 deletion in those with conotruncal CHDs versus isolated non-conotruncal CHDs.

Methods: All patients with antenatal ultrasound finding of fetal CHDs in two obstetric units in a 5-year period were retrospectively reviewed. Read More

Exp Ther Med 2019 Jan 26;17(1):895-900. Epub 2018 Nov 26.

Department of Nuclear Medicine, Yunnan Tumor Hospital, Kunming, Yunnan 650118, P.R. China.

A vast amount of evidence indicates that long non-coding RNAs (lncRNAs) are involved in cancer. Previous studies have indicated that lncRNA DiGeorge syndrome critical region gene 5 (DGCR5) is aberrantly expressed in lung cancer, pancreatic ductal adenocarcinoma and hepatocellular carcinoma. However, the role of DGCR5 in papillary thyroid carcinoma (PTC) has remained elusive. Read More

Am J Med Genet A 2019 Mar 9;179(3):404-409. Epub 2019 Jan 9.

Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom.

The bladder exstrophy-epispadias complex (BEEC) comprises of a spectrum of anterior midline defects, all affecting the lower urinary tract, the external genitalia, and the bony pelvis. In extreme cases, the gastrointestinal tract is also affected. The pathogenesis of BEEC is unclear but chromosomal aberrations have been reported. Read More

Hum Genet 2019 Jan 9;138(1):93-103. Epub 2019 Jan 9.

Genetics Division, Universidade Federal de São Paulo, São Paulo, Brazil.

The 22q11.2 deletion syndrome (22q11.2DS) is caused by recurrent hemizygous deletions of chromosome 22q11. Read More

Genesis 2019 01 21;57(1):e23278. Epub 2019 Jan 21.

Department of Developmental Biology and Cancer Research, Institute for Medical Research Israel-Canada, Faculty of Medicine, Hebrew University, Jerusalem, Israel.

Fetal Alcohol Spectrum Disorder (FASD) is a set of neurodevelopmental malformations caused by maternal consumption of alcohol during pregnancy. FASD sentinel facial features are unique to the disorder, and microcephaly is common in severe forms of FASD. Retinoic acid deficiency has been shown to cause craniofacial malformations and microcephaly in animal models reminiscent of those caused by prenatal alcohol exposure. Read More

Semin Cardiothorac Vasc Anesth 2018 Dec 29:1089253218821382. Epub 2018 Dec 29.

3 Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.

Common arterial trunk (CAT), or truncus arteriosus, is a rare form of cyanotic congenital heart disease and is highly associated with DiGeorge syndrome (microdeletion 22q11.2). Prenatal diagnosis is highly feasible, allowing proper delivery planning and postnatal management. Read More

Am J Med Genet A 2019 Mar 24;179(3):381-385. Epub 2018 Dec 24.

Division of Urology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

The 22q11.2 deletion syndrome (22q11.2DS) involves multiple organ systems with variable phenotypic expression. Read More

Immunol Rev 2019 Jan;287(1):186-201

The Children's Hospital of Philadelphia, The University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania.

Chromosome 22q11.2 deletion syndrome is the most common microdeletion syndrome in humans. The effects are protean and highly variable, making a unified approach difficult. Read More

Int J Pediatr Otorhinolaryngol 2019 Jan 12;116:43-48. Epub 2018 Oct 12.

The Children's Hospital of Philadelphia, 3400 Civic Center Boulevard, Philadelphia, PA, 19104, USA.

Objective: To determine demographics and practice patterns of surgeons treating velopharyngeal dysfunction (VPD) in patients with 22q11.2 deletion syndrome (22q11.2DS). Read More

J Cell Physiol 2018 Dec 13. Epub 2018 Dec 13.

Department of Oncology, RenMin Hospital of Wuhan University, Wuhan, China.

Long noncoding RNAs (lncRNAs) exert critical roles in the development of various cancers, including human laryngeal cancer. Radioresistance contributes to the predominant causes of laryngeal cancer recurrence after radiotherapy. The aim of our study was to investigate the association of dysregulated lncRNA and radiation resistance in human larynx squamous carcinoma. Read More

J Cell Physiol 2018 Dec 4. Epub 2018 Dec 4.

Department of General Surgery, Affiliated People's Hospital of Jiangsu University, Zhenjiang, China.

Long noncoding RNA (lncRNA) DiGeorge syndrome critical region gene 5 (DGCR5) has been reported to correlate with a variety of cancers, with its expression pattern and potential mechanism not clarified in gastric cancer (GC). In this study, we demonstrated that DGCR5 was downregulated in cancerous tissues and plasma samples from patients with GC, and its downregulation was associated with advanced TNM stage and positive lymphatic metastasis. Plasma DGCR5 had an area under the receiver operating characteristic curve (AUC) of 0. Read More

Am J Case Rep 2018 Nov 28;19:1416-1421. Epub 2018 Nov 28.

Department of Medical, Oral and Biotechnological Sciences, University 'G. d'Annunzio' of Chieti-Pescara, Chieti, Italy.

BACKGROUND We present a report of a rare cardiac malformation case as well as a review of the literature. In addition, the diagnostic features are discussed. CASE REPORT The case of a female newborn who died on her third day of life was studied at the Institute of Legal Medicine, University of Chieti-Pescara (Italy). Read More

Colomb Med (Cali) 2018 Sep 30;49(3):219-222. Epub 2018 Sep 30.

División de Genética - CIBO. Instituto Mexicano del Seguro Social, Guadalajara, México.

Introduction: Deletion 22q11.2 occurs in 1:4,000-1:6,000 live births while 10p13p14 deletion is found in 1:200,000 newborns. Both deletions have similar clinical features such as congenital heart disease and immunological anomalies. Read More

Ment Health Clin 2018 Nov 1;8(6):313-316. Epub 2018 Nov 1.

Clinical Pharmacy Specialist, Pediatric Intensive Care and Cardiology/Heart Transplant, The Johns Hopkins Hospital, Baltimore, Maryland.

DiGeorge Syndrome (22q11.2 deletion syndrome) is a chromosomal disorder associated with both congenital heart malformations and schizophrenia, which is often treatment-resistant and may warrant treatment with clozapine. Clozapine-induced myocarditis (CIM) is a rare complication of clozapine therapy, with a reported incidence ranging from 0. Read More

Am J Med Genet A 2018 Oct;176(10):2070-2081

Institute of Child Health, University College London, London, UK.

The 22q11.2 deletion syndrome (22q11.2DS) is a congenital malformation and neuropsychiatric disorder caused by meiotic chromosome rearrangements. Read More

Am J Med Genet A 2018 Oct;176(10):2058-2069

Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

22q11.2 deletion syndrome (22q11.2DS) is a disorder caused by recurrent, chromosome-specific, low copy repeat (LCR)-mediated copy-number losses of chromosome 22q11. Read More

Am J Med Genet A 2018 Oct;176(10):2167-2171

Clinical Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

Hypocalcemia has been reported in ~50% of patients 22q11.2DS and calcium regulation is known to play a role in neuronal development and synaptic plasticity. Because calcium ions play a role in neuronal function and development, we hypothesized that hypocalcemia would be associated with adverse effects on full scale IQ index (FSIQ) in patients with 22q11. Read More

Curr Allergy Asthma Rep 2018 Oct 30;18(12):75. Epub 2018 Oct 30.

Department of Pathology, Division of Genomic Medicine, Children's Hospital Los Angeles, USC Keck School of Medicine, 4650 Sunset Blvd, Los Angeles, CA, 90027, USA.

Purpose Of Review: This review provides an update on the progress in identifying the range of immunological dysfunction seen in DiGeorge syndrome and on more recent diagnostic and treatment approaches.

Recent Findings: Clinically, the associated thymic hypoplasia/aplasia is well known and can have profound effects on T cell function. Further, the humoral arm of the immune system can be affected, with hypogammaglobulinemia and poor vaccine-specific antibody response. Read More

Cleft Palate Craniofac J 2018 Oct 30:1055665618807822. Epub 2018 Oct 30.

1 Key Laboratory of Health Ministry for Congenital Malformation, Shengjing Hospital, China Medical University, Shenyang, China.

Objective:: Cleft lip and palate (CLP) is the most common human cranial and maxillofacial birth defect. The aim of this bibliometric analysis was to provide an overview of the development of CLP-related research.

Method:: Cleft lip and palate-related studies published from 2000 to 2017 were retrieved from the Science Citation Index Expanded core database. Read More

Cureus 2018 Aug 14;10(8):e3142. Epub 2018 Aug 14.

Behavioral Health, Kings County Hospital Center, New York, USA.

Herein we present the unique case of a 21-year-old African American woman who presented with psychotic features and the incidental finding of basal ganglia calcifications on computed tomography (CT) scan of the head. She was initially presumed to have Fahr's syndrome in the context of idiopathic bilateral basal ganglia calcifications and psychotic features. Genetic testing performed revealed the deletion of 22q11. Read More

Reprod Sci 2018 Oct 16:1933719118804416. Epub 2018 Oct 16.

1 Department of Obstetrics and Gynecology, Xijing Hospital, The Fourth Military Medical University, Xi'an, China.

Objective: To evaluate the diagnostic accuracy of the BACs-on-Beads (BoBs) assay for the rapid diagnosis of common aneuploidies and microdeletion syndromes.

Methods: BACs-on-Beads and chromosomal karyotyping were used for detecting 3647 cases of amniotic fluid samples with indications for prenatal diagnosis, which were collected from January 2015 to June 2017 in Xijing Hospital. Fluorescence in situ hybridization (FISH) or chromosomal microarray analysis (CMA) provided further validation. Read More

Am J Physiol Gastrointest Liver Physiol 2018 Dec 4;315(6):G980-G990. Epub 2018 Oct 4.

Department of Oral Diagnostic Sciences and Research, School of Dentistry, Meharry Medical College , Nashville, Tennessee.

An impaired nitrergic system and altered redox signaling contribute to gastric dysmotility in diabetics. Our earlier studies show that NF-E2-related factor 2 (NRF2) and phase II antioxidant enzymes play a vital role in gastric neuronal nitric oxide synthase (nNOS) function. This study aims to investigate whether supplementation of sepiapterin (SEP), a precursor for tetrahydrobiopterin (BH) (a cofactor of NOS) via the salvage pathway, restores altered nitrergic systems and redox balance in spontaneous diabetic (DB) female rats. Read More

Am J Med Genet A 2018 Oct 1;176(10):2099-2103. Epub 2018 Oct 1.

Human Genetics, The Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.

Hypocalcemia is one of the cardinal features of the chromosome 22q11.2 deletion syndrome (22q11.2DS), the most common cause of DiGeorge syndrome. Read More

J Pediatr 2019 Jan 26;204:219-224.e1. Epub 2018 Sep 26.

Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan; Department of Life Sciences and Institute of Genome Sciences, National Yang-Ming University, Taipei, Taiwan; Department of Pediatrics, Renai Branch, Taipei City Hospital, Taipei, Taiwan. Electronic address:

Objective: Based on experiences and results from newborn screening for severe combined immunodeficiency (SCID), we evaluated the occurrence of chromosome 22q11.2 deletion syndrome (22q11.2DS) in newborns with different T cell receptor excision circles (TREC) results and established a second tier genetic test for 22q11. Read More

Immunol Cell Biol 2018 Sep 28. Epub 2018 Sep 28.

Seattle Children's Research Institute, Seattle, Washington, USA.

Hyper IgE syndromes comprise a group of rare primary immunodeficiency disorders characterized by a triad of atopic dermatitis, recurrent skin and lung infections along with elevated IgE levels. Job syndrome or autosomal dominant hyper IgE syndrome because of heterozygous loss-of-function mutations with dominant negative effect in signal transducer and activator of transcription-3 is the prototype of these disorders. However, several other genetically characterized immunodeficiency disorders have been identified over the past decade and joined the umbrella of hyper IgE syndromes including autosomal recessive mutations in the DOCK8, ZNF431 and PGM3 genes and heterozygous mutations with dominant negative effect in the CARD11 gene. Read More

S Afr J Psychiatr 2018 21;24:1164. Epub 2018 Feb 21.

Department of Psychiatry, University of Botswana, Botswana.

DiGeorge syndrome (DGS) was first described in 1829 by Dr Angelo DiGeorge. DGS is a cluster of symptoms because of a defect in the development of the pharyngeal pouch. Evidence from cytogenetic studies has linked the pathogenesis of DGS with a deletion of a gene located in chromosome 22-band 22q11. Read More

J Cardiovasc Dev Dis 2018 Sep 23;5(4). Epub 2018 Sep 23.

UCL Great Ormond Street-Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK.

Haploinsufficiency of the T-box transcription factor is responsible for many features of 22q11.2 deletion syndrome. is expressed dynamically in the pharyngeal apparatus during mouse development and homozygous mutants display numerous severe defects including abnormal cranial ganglion formation and neural crest cell defects. Read More

Am J Med Genet A 2018 Oct 23;176(10):2203-2214. Epub 2018 Sep 23.

The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

22q11.2 deletion syndrome (DS) is the most frequent copy number variant (CNV) affecting ~1/1,000 fetuses and ~1/2,000-4,000 children, resulting in recognizable but variable findings across multiple organ systems. Patients with atypical features should prompt consideration of coexisting diagnoses due to additional genome-wide mutations, CNVs, or mutations/CNVs on the other allele, unmasking autosomal recessive conditions. Read More

J Cell Physiol 2019 May 21;234(5):6254-6262. Epub 2018 Sep 21.

Department of Urinary Surgery, Shanghai Ruijin Hospital, Shanghai, China.

Mounting studies show that long noncoding RNAs (lncRNAs) could affect human cancer progression, including bladder cancer (BCa). LncRNA DiGeorge syndrome critical region gene 5 (DGCR5) has been proven to be involved in lung cancer, pancreatic ductal adenocarcinoma, and hepatocellular carcinoma. However, the function of DGCR5 in BCa remains largely unknown. Read More

Exp Ther Med 2018 Oct 16;16(4):3589-3595. Epub 2018 Aug 16.

Department of Functional Sciences, Victor Babeș University of Medicine and Pharmacy, 300173 Timisoara, Romania.

The present study reports the case of a 3-h old male with a unbalanced t(15;22) translocation and velo-cardio-facial syndrome (VCFS), with other abnormalities. The manifestations of the condition observed in the patient included cleft palate with feeding difficulties, respiratory infection, dysmorphic face with almond-shaped eyes, a long and wide nose, small and low-set ears, tetralogy of Fallot, cryptorchidism and varus equinus. Standard lymphocyte cytogenetic analysis using G-banding demonstrated a 45,XY,-22,der (15),t(15;22)(q26. Read More

Neurol India 2018 Sep-Oct;66(5):1370-1376

Genetic and Metabolic Unit, Department of Pediatrics, Advanced Pediatric Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

Background: A retrospective analysis using chromosomal microarray in syndromic patients with intellectual disability from genetic clinics of a tertiary healthcare center in India was conducted.

Aim: To identify the spectrum of chromosomal abnormalities detected on microarray analysis.

Settings And Design: Cases were identified among those with intellectual disability with dysmorphism attending genetic clinics of a tertiary care center. Read More

BMJ Case Rep 2018 Sep 18;2018. Epub 2018 Sep 18.

Faculty of Dentistry, King Abdulaziz University, Jeddah, Saudi Arabia.

22q11.2 deletion syndrome (22q11.2DS) is one of the most common microdeletion syndromes, with an incidence of approximately 1/2000-1/4000 live births; it is thought to be mainly attributable to a de novo deletion. Read More

J Cell Biochem 2019 Jan 19;120(1):275-282. Epub 2018 Sep 19.

Department of General Surgery, Lianshui County People's Hospital, Huai'an, China.

Increasing studies have indicated that long noncoding RNAs (lncRNAs) exert important roles in hepatocellular carcinoma (HCC). Therefore, it is of great significance to identify the dysregulated lncRNAs in HCC. According to the previous reports, it has been suggested that DiGeorge syndrome critical region gene 5 (DGCR5) might participate in HCC and can serve as potential biomarker for HCC. Read More

Psychol Med 2018 Sep 18:1-9. Epub 2018 Sep 18.

Departments of Psychiatry and Behavioral Sciences,State University of New York at Upstate Medical University,Syracuse, New York,USA.

Background: Chromosome 22q11.2 deletion syndrome (22q11DS) is associated with high rates of psychiatric disorders, including schizophrenia in up to 30% of individuals with the syndrome. Despite this, we know relatively little about trajectories and predictors of persistence of psychiatric disorders from middle childhood to early adulthood. Read More

J Clin Lab Anal 2018 Sep 17:e22660. Epub 2018 Sep 17.

Department of Medical Genetics, Liuzhou Maternal and Children Healthcare Hospital, Liuzhou, China.

Background: Congenital heart disease (CHD) is a common birth defect originating from both environmental and genetic factors. An overabundance of copy number variations (CNVs) affecting cardiac-related genes has previously been detected in individuals with CHD.

Objective: To evaluate if the presence of CNVs in the 22q11. Read More

BMJ Case Rep 2018 Sep 14;2018. Epub 2018 Sep 14.

Department of Neurosciences and Pediatrics, University of California San Diego, San Diego, California, USA.

J Cell Physiol 2018 Jan 14;234(1):572-580. Epub 2018 Sep 14.

Imaging Department, The Central Hospital of Wuhan, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China.

Long non-coding RNAs (lncRNAs) are a class of regulatory noncoding RNAs. Emerging evidence highlights the critical roles of lncRNAs in the progression of hepatocellular carcinoma (HCC). Although many lncRNAs have been identified in the development of HCC, the association between DiGeorge syndrome critical region gene 5 (DGCR5) and HCC remains unclear. Read More

Am J Med Genet A 2018 Oct 12;176(10):2128-2134. Epub 2018 Sep 12.

Department of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.

Otorhinolaryngologic manifestations are common in 22q11.2 deletion syndrome (22q11.2DS), but poorly described. Read More

Cardiol Young 2019 Jan 30;29(1):19-22. Epub 2018 Aug 30.

1Division of Pediatric Cardiology,Stanford Hospital and Clinics,Stanford,CA,USA.

Background: A 22q11 chromosome deletion is common in patients with tetralogy of Fallot, pulmonary atresia, and major aortopulmonary collaterals. We sought to determine whether 22q11 chromosome deletion is associated with increased postoperative morbidity after unifocalisation surgery.

Methods: We included all patients with this diagnosis undergoing primary or revision unifocalisation ± ventricular septal defect closure at our institution from 2008 to 2016, and we excluded patients with unknown 22q11 status. Read More

Arch Oral Biol 2018 Nov 9;95:149-155. Epub 2018 Aug 9.

Life Science Center of Tsukuba Advanced Research Alliance, University of Tsukuba, Tsukuba 305-8577, Japan.

Objective: We examined the function of the T-box transcription factor 1 (TBX1) in palatogenesis.

Design: Tbx1-knockout mice were histologically examined by hematoxylin and eosin staining. Next, secondary palatal shelves dissected from wild type or Tbx1-knockout mice embryos at embryonic day 13. Read More

Front Immunol 2018 23;9:1730. Epub 2018 Jul 23.

Department of Immunology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czechia.

DiGeorge syndrome is an immunodeficiency characterized by thymic dysplasia resulting in T cell lymphopenia. Most patients suffer from increased susceptibility to infections and heightened prevalence of autoimmune disorders, such as autoimmune thrombocytopenia. B cells in DiGeorge syndrome show impaired maturation, with low switched-memory B cells and a wide spectrum of antibody deficiencies or dysgammaglobulinemia, presumably due to impaired germinal center responses. Read More

Clin Pediatr Endocrinol 2018 31;27(3):159-164. Epub 2018 Jul 31.

Department of Pediatrics, Okayama University Hospital, Okayama, Japan.

Patients with 22q11.2 deletion syndrome have characteristic facial appearance, palate abnormalities, hypoparathyroidism, thymic hypoplasia, and congenital heart disease. The 22q11. Read More

Cell Rep 2018 Jul;24(5):1342-1354.e5

Cardiovascular Research Center, Massachusetts General Hospital, Charlestown, MA 02129, USA; Harvard Medical School, Boston, MA 02115, USA; Harvard Stem Cell Institute, Cambridge, MA 02138, USA. Electronic address:

Microdeletions involving TBX1 result in variable congenital malformations known collectively as 22q11.2 deletion syndrome (22q11.2DS). Read More

Am J Med Genet A 2018 Aug 28;176(8):1735-1741. Epub 2018 Jul 28.

Center for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

22q deletion syndrome (22q11.2DS) is most often correlated prenatally with congenital heart disease and or cleft palate. The extracardiac fetal phenotype associated with 22q11. Read More

J Craniofac Surg 2018 Sep;29(6):1480-1485

Plastic Surgery Unit, Alfredo Gantz Mann Foundation.

The most frequent palate diagnoses in patients with chromosome 22q11.2 deletion syndrome are a classic submucous cleft, occult, and velopharyngeal insufficiency without cleft, which generates alterations in speech that require surgery. Surgical protocols are controversial owing to syndrome characteristics that make their handling more complex. Read More

FEBS Lett 2018 Sep 13;592(17):2973-2986. Epub 2018 Aug 13.

Sir William Dunn School of Pathology, University of Oxford, UK.

MicroRNAs (miRNAs) are small regulatory noncoding RNAs that are generated in the canonical RNA interference (RNAi) pathway. Drosha, DiGeorge syndrome critical region 8 (DGCR8) and Dicer are key players in miRNA biogenesis. Argonaute (Ago) proteins bind to miRNAs and are guided by them to find messenger RNA targets and carry out post-transcriptional silencing of protein-coding genes. Read More

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