235 results match your criteria WAGR Syndrome


The genetic architecture of aniridia and Gillespie syndrome.

Hum Genet 2018 Sep 22. Epub 2018 Sep 22.

MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, The University of Edinburgh, Western General Hospital, Crewe Road, Edinburgh, EH4 2XU, UK.

Absence of part or all of the iris, aniridia, is a feature of several genetically distinct conditions. This review focuses on iris development and then the clinical features and molecular genetics of these iris malformations. Classical aniridia, a panocular eye malformation including foveal hypoplasia, is the archetypal phenotype associated with heterozygous PAX6 loss-of-function mutations. Read More

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September 2018
1 Read

Obesity in Childhood and Adolescence, Genetic Factors.

Pril (Makedon Akad Nauk Umet Odd Med Nauki) 2017 Dec;38(3):121-133

Faculty of Medicine, University "Ss. Cyril and Methodius", 50 Divizija BB,1000 Skopje, Republic of Macedonia.

Obesity and excess weight are a pandemic phenomenon in the modern world. Childhood and adolescent obesity often ends up in obesity in adults. The costs of obesity and its consequences are staggering for any society, crippling for countries in development. Read More

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December 2017
2 Reads

Nephron-sparing Surgery for Syndromic Wilms' Tumor: Robotic Approach.

Urology 2018 Jun 20;116:172-175. Epub 2018 Mar 20.

Department of Pediatric Urology & Pediatric Surgery, Indraprastha Apollo Hospital, New Delhi, India. Electronic address:

The current standard treatment for stage I Wilms' tumor is open radical nephrectomy. Patients with WAGR syndrome and Wilms' tumor have risk of contralateral tumor and are a group of patients benefitted by nephron-sparing surgery (NSS). Whereas laparoscopic NSS has been attempted in such patients, due to the inherent technical limitations it has failed to gain popularity. Read More

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Sustained endocrine profiles of a girl with WAGR syndrome.

BMC Med Genet 2017 10 23;18(1):117. Epub 2017 Oct 23.

Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, 812-8582, Japan.

Background: Wilms tumor, aniridia, genitourinary anomalies and mental retardation (WAGR) syndrome is a rare genetic disorder caused by heterozygous deletions of WT1 and PAX6 at chromosome 11p13. Deletion of BDNF is known eto be associated with hyperphagia and obesity in both humans and animal models; however, neuroendocrine and epigenetic profiles of individuals with WAGR syndrome remain to be determined.

Case Presentation: We report a 5-year-old girl with the typical phenotype of WAGR syndrome. Read More

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October 2017
13 Reads

Correction: The WAGR syndrome gene PRRG4 is a functional homologue of the commissureless axon guidance gene.

PLoS Genet 2017 10 23;13(10):e1007061. Epub 2017 Oct 23.

[This corrects the article DOI: 10.1371/journal.pgen. Read More

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October 2017
2 Reads

The WAGR syndrome gene PRRG4 is a functional homologue of the commissureless axon guidance gene.

PLoS Genet 2017 Aug 31;13(8):e1006865. Epub 2017 Aug 31.

Department of Biology/ms 314, University of Nevada, Reno, Nevada, United States of America.

WAGR syndrome is characterized by Wilm's tumor, aniridia, genitourinary abnormalities and intellectual disabilities. WAGR is caused by a chromosomal deletion that includes the PAX6, WT1 and PRRG4 genes. PRRG4 is proposed to contribute to the autistic symptoms of WAGR syndrome, but the molecular function of PRRG4 genes remains unknown. Read More

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August 2017
13 Reads

Heterogeneity of human WT1 gene.

Postepy Hig Med Dosw (Online) 2017 Jul 11;71(0):595-601. Epub 2017 Jul 11.

Katedra i Zakład Genetyki Klinicznej, Collegium Medicum w Bydgoszczy, Uniwersytet Mikołaja Kopernika w Toruniu.

The WT1 gene, characterized by an extremely complex structure, is located on chromosome 11. It is involved in cell growth and differentiation, and has a strong impact on consecutive stages of the functioning of the body. The WT1 gene may undergo many different mutations, as well as may be overexpressed without a mutation. Read More

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July 2017
20 Reads

Management of bilateral Wilms tumours.

Pediatr Surg Int 2017 Jul 17;33(7):737-745. Epub 2017 May 17.

Associate Professor and Head of Division of Haematology and Oncology, Red Cross War Memorial Children's Hospital, University of Cape Town, Cape Town, South Africa.

Wilms tumour is named after Max Wilms. It is an embryonal tumour derived from the metanephros. It is the commonest childhood renal tumour and the third commonest paediatric malignancy. Read More

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July 2017
8 Reads

WAGR syndrome and congenital hypothyroidism in a child with a Mosaic 11p13 deletion.

Am J Med Genet A 2017 Jun 11;173(6):1690-1693. Epub 2017 Apr 11.

Service de Génétique Clinique Guy Fontaine et Université de Lille 2, Hôpital Jeanne de Flandre, Lille, France.

Wilm's tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR) syndrome, a rare genetic disorder, is caused by the loss of 11p13 region including PAX6 and WT1. We report novel findings in a 28-month-old boy with aniridia, Wilm's tumor, congenital hypothyroidism, and sublingual thyroid ectopia. He was found to have a mosaic 5. Read More

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June 2017
11 Reads

Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations.

Clin Genet 2017 Dec 2;92(6):639-644. Epub 2017 Aug 2.

Federal State Budgetary Institution 'Research Center for Medical Genetics', Moscow, Russian Federation.

Congenital aniridia is a severe autosomal dominant congenital panocular disorder, mainly associated with pathogenic variants in the PAX6 gene. The objective of the study was to investigate the mutational and clinical spectra of congenital aniridia in a cohort of 117 patients from Russia. Each patient underwent detailed ophthalmological examination. Read More

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December 2017
72 Reads

Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH.

PLoS One 2017 23;12(2):e0172363. Epub 2017 Feb 23.

Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital- Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.

Chromosomal deletions at 11p13 are a frequent cause of congenital Aniridia, a rare pan-ocular genetic disease, and of WAGR syndrome, accounting up to 30% of cases. First-tier genetic testing for newborn with aniridia, to detect 11p13 rearrangements, includes Multiplex Ligation-dependent Probe Amplification (MLPA) and karyotyping. However, neither of these approaches allow obtaining a complete picture of the high complexity of chromosomal deletions and breakpoints in aniridia. Read More

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August 2017
14 Reads

Management of bilateral Wilms tumours.

Pediatr Surg Int 2017 Apr 4;33(4):461-469. Epub 2017 Jan 4.

Division of Haematology and Oncology, University of Cape Town and Red Cross War Memorial Children's Hospital, Cape Town, South Africa.

Wilms tumour is named after Max Wilms. It is an embryonal tumour derived from the metanephros. It is the commonest childhood renal tumour and the third commonest paediatric malignancy. Read More

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April 2017
3 Reads

A nonsense mutation in a family with congenital aniridia.

Korean J Pediatr 2016 Nov 30;59(Suppl 1):S1-S4. Epub 2016 Nov 30.

Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.; Research Coordination Center for Rare Diseases, Seoul National University Hospital, Seoul, Korea.; Kidney Research Institute, Medical Research Center, Seoul National University College of Medicine, Seoul, Korea.

Congenital aniridia is a rare ocular malformation that presents with severe hypoplasia of the iris and various ocular manifestations. Most cases of congenital aniridia are known to be related to mutations in the paired box gene-6 (), which is an essential gene in eye development. Herein, we report a familial case of autosomal dominant congenital aniridia with four affected members in 3 consecutive generations and describe the detailed ophthalmologic findings for one of these members. Read More

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November 2016
10 Reads

A CGH array procedure to detect PAX6 gene structural defects.

Mol Cell Probes 2017 04 2;32:65-68. Epub 2016 Dec 2.

Istituto di Genetica Medica, Azienda Ospedaliero-Universitaria di Udine, Italy; Dipartimento di Scienze Mediche e Biologiche, Università di Udine, Italy. Electronic address:

Aniridia is a rare congenital disease characterized by eye development defects, in which the more evident clinical manifestation is iris absence or malformation. In most of the patients, aniridia is associated to PAX6 gene point mutations or deletions. When these deletions are large and involve other genes, a more complex disease, named WAGR syndrome, arises. Read More

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April 2017
5 Reads

Dysgerminoma developing from an ectopic ovary in a patient with WAGR syndrome: A case report.

Mol Clin Oncol 2016 Nov 25;5(5):503-506. Epub 2016 Aug 25.

Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki, Aomori 036-8562, Japan.

WAGR syndrome is caused by an 11p13 deletion and includes Wilms' tumor, aniridia, genitourinary anomalies and mental retardation. We encountered a case of a dysgerminoma originating in an ectopic ovary in a woman with WAGR syndrome. Our patient was a 24-year-old nulliparous woman who was diagnosed with WAGR syndrome. Read More

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November 2016
7 Reads

Congenital Aniridia with Ectopia Lentis.

J Clin Diagn Res 2016 Jul 1;10(7):NJ01-2. Epub 2016 Jul 1.

Assistant Professor, Department of Community Ophthalmolgy, Regional Institute of Ophthalmology, Indira Gandhi Institute of Medical Sciences , Patna, Bihar, India .

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July 2016
4 Reads

Denys-Drash syndrome associated WT1 glutamine 369 mutants have altered sequence-preferences and altered responses to epigenetic modifications.

Nucleic Acids Res 2016 12 4;44(21):10165-10176. Epub 2016 Sep 4.

Department of Biochemistry, Emory University School of Medicine, Atlanta, GA 30322, USA

Mutations in human zinc-finger transcription factor WT1 result in abnormal development of the kidneys and genitalia and an array of pediatric problems including nephropathy, blastoma, gonadal dysgenesis and genital discordance. Several overlapping phenotypes are associated with WT1 mutations, including Wilms tumors, Denys-Drash syndrome (DDS), Frasier syndrome (FS) and WAGR syndrome (Wilms tumor, aniridia, genitourinary malformations, and mental retardation). These conditions vary in severity from individual to individual; they can be fatal in early childhood, or relatively benign into adulthood. Read More

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December 2016
12 Reads

Clinical Aspects of WT1 and the Kidney.

Methods Mol Biol 2016 ;1467:15-21

ECAT Clinical Lecturer-Nephrology, IGMM Human Genetics Unit, Western General Hospital, University of Edinburgh, Crewe Road, Edinburgh, EH4 2XU, UK.

For more than 30 years, WT1 mutations have been associated with complex developmental syndromes involving the kidney. Acting as a transcription factor, WT1 is expressed throughout the nephron and controls the reciprocal interactions and phenotypic changes required for normal renal development. In the adult, WT1 expression remains extremely high in the renal podocyte, and at a lower level in the parietal epithelial cells. Read More

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January 2018
2 Reads

Rare Syndromes and Common Variants of the Brain-Derived Neurotrophic Factor Gene in Human Obesity.

Authors:
J C Han

Prog Mol Biol Transl Sci 2016 3;140:75-95. Epub 2016 Feb 3.

Department of Pediatrics, University of Tennessee Health Science Center and Children's Foundation Research Institute, Le Bonheur Children's Hospital, Memphis, TN, United States of America. Electronic address:

Rare genetic disorders that cause BDNF haploinsufficiency, such as WAGR syndrome, 11p deletion, and 11p inversion, serve as models for understanding the role of BDNF in human energy balance and neurocognition. Patients with BDNF haploinsufficiency or inactivating mutations of the BDNF receptor exhibit hyperphagia, childhood-onset obesity, intellectual disability, and impaired nociception. Prader-Willi, Smith-Magenis, and ROHHAD syndromes are separate genetic disorders that do not directly affect the BDNF locus but share many similar clinical features with BDNF haploinsufficiency, and BDNF insufficiency is believed to possibly contribute to the pathophysiology of each of these conditions. Read More

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June 2017
3 Reads

The oculocerebrorenal syndrome of Lowe: an update.

Pediatr Nephrol 2016 12 24;31(12):2201-2212. Epub 2016 Mar 24.

Department of Clinical Chemistry and Clinical Pharmacology, University of Bonn, Bonn, Germany.

The oculocerebrorenal syndrome of Lowe is a rare X-linked multisystemic disorder characterized by the triad of congenital cataracts, intellectual disability, and proximal renal tubular dysfunction. Whereas the ocular manifestations and severe muscular hypotonia are the typical first diagnostic clues apparent at birth, the manifestations of incomplete renal Fanconi syndrome are often recognized only later in life. Other characteristic features are progressive severe growth retardation and behavioral problems, with tantrums. Read More

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December 2016
7 Reads

Screening of PAX6 gene in Italian congenital aniridia patients revealed four novel mutations.

Ophthalmic Genet 2016 09 5;37(3):307-13. Epub 2016 Feb 5.

a Department of Laboratory Medicine , Medical Genetics, Niguarda Ca' Granda Hospital , Milan , Italy.

Purpose: To uncover underlying mutations in a cohort of Italian patients with aniridia, a rare congenital panocular condition with an incidence ranging from 1:64,000 to 1:100,000. The disease may be found isolated or in association with other syndromes characterized by partial or complete absence of the iris and iris hypoplasia.

Methods: We analyzed the PAX6 gene in 11 patients with aniridia fulfilling the following inclusion criteria: partial or complete absence of the iris and age < 18 years at the time of diagnosis. Read More

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September 2016
13 Reads

Prenatal Diagnosis of WAGR Syndrome.

Case Rep Obstet Gynecol 2015 28;2015:928585. Epub 2015 Oct 28.

Department of Women's Health, St George's University Hospital NHS Foundation Trust, Blackshaw Road, Tooting, London SW17 0QT, UK.

Wilm's tumour, aniridia, genitourinary abnormalities, and mental retardation (WAGR) syndrome is a rare genetic disorder with an estimated prevalence of 1 in 500,000 to 1 million. It is a contiguous gene syndrome due to deletion at chromosome 11p13 in a region containing WT1 and PAX6 genes. Children with WAGR syndrome mostly present in the newborn/infancy period with sporadic aniridia. Read More

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November 2015
12 Reads

Renal involvement in tuberous sclerosis complex with emphasis on cystic lesions.

Radiol Med 2016 May 29;121(5):402-8. Epub 2015 Jul 29.

Department of Pediatric Imaging, Hôpital Jeanne de Flandre, Avenue Eugène Avinée, 59037, Lille Cedex, France.

Introduction: Tuberous sclerosis complex (TSC) involves frequently the kidneys. Lesions encompass mainly angiomyolipoma and cysts. The disease can be associated with autosomal dominant polycystic kidney disease leading to the contiguous gene syndrome (CGS) The objectives of the present study were to review the US appearances of the renal involvement in children affected by classical TSC or by the CGS and to verify whether it is possible to differentiate between both entities. Read More

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May 2016
4 Reads

A case of WAGR syndrome in association with developmental glaucoma requiring bilateral Baerveldt glaucoma implants and subsequent tube repositioning.

Clin Ophthalmol 2015 15;9:1081-4. Epub 2015 Jun 15.

Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan.

Glaucoma drainage device implantation is efficacious for the treatment of pediatric glaucoma patients when multiple angle surgeries fail. However, tube touching of the corneal endothelium is one of the major postoperative complications to deal with. A 15-month-old male patient with Wilms' tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR) syndrome was diagnosed with bilateral developmental glaucoma. Read More

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June 2015
1 Read

A Case of WAGR Syndrome with Peters' Anomaly.

Klin Monbl Augenheilkd 2015 Apr 22;232(4):382-3. Epub 2015 Apr 22.

Department of Ophthalmology, University Hospital, Basel, Switzerland (Director ad interim: Dr. N. Spirig).

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April 2015
3 Reads

Common genetic and epigenetic syndromes.

Pediatr Clin North Am 2015 Apr 22;62(2):411-26. Epub 2015 Jan 22.

Albany Medical Center, Albany, NY, USA.

Cytogenetic anomalies should be considered in individuals with multiple congenital anomalies. DNA methylation analysis is the most sensitive initial test in evaluating for Prader-Willi and Angelman syndromes. The timely identification of cytogenetic anomalies allows for prompt initiation of early intervention services to maximize the potential of every individual as they grow older. Read More

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April 2015
2 Reads

[Aniridia syndrome: clinical findings, problematic courses and suggestions for optimization of care ("aniridia guide")].

Ophthalmologe 2014 Dec;111(12):1145-56

Klinik für Augenheilkunde, Sektion KiOLoN, Kinderophthalmologie, Orthoptik, Low Vision, Neuroophthalmologie, Universitätsklinikum des Saarlandes UKS, Kirrbergerstr. 100, Geb. 22, 66424, Homburg (Saar), Deutschland,

Background: Congenital aniridia manifests in different forms: it can be transmitted in an autosomal dominant way, as sporadic aniridia and as part of several syndromes including WAGR (Wilms tumor, aniridia, genitourinary abnormalities and intellectual disability) and WAGRO syndromes (WAGR and obesity). Furthermore, recent research shows that aniridia associated with alterations in the PAX6 gene often shows further systemic implications (e.g. Read More

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December 2014
2 Reads

[Genetics of congenital aniridia].

Ophthalmologe 2014 Dec;111(12):1157-63

Bioscientia Zentrum für Humangenetik, Konrad Adenauer-Str. 17, 55218, Ingelheim, Deutschland.

Background: Mutations in the PAX6 gene mostly cause non-syndromic aniridia with autosomal dominant inheritance and familial occurrence. The underlying point mutations and deletions in the PAX6 locus cause loss-of-function of one gene copy (haploinsufficiency). Mutations with residual PAX6 function often result in milder disease expression but may also cause distinct and more severe ocular phenotypes. Read More

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December 2014
7 Reads

Malformation syndromes associated with disorders of sex development.

Nat Rev Endocrinol 2014 Aug 10;10(8):476-87. Epub 2014 Jun 10.

Department of Surgery, Austin Hospital, Studley Park Road, Heidelberg, Melbourne, VIC 3058, Australia.

When embryological development of the internal and/or external genitalia is disrupted, the patient presents with a disorder of sex development (DSD) in the neonatal period or sometime later in life. Some of these patients have other, nongenital malformations, which makes their overall management more complex than if they just had a DSD. This Review summarises these malformation syndromes and discusses the recent research into their aetiology. Read More

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August 2014
12 Reads

Wilms tumor: an update.

Adv Anat Pathol 2014 May;21(3):166-73

Departments of *Pathology and Laboratory Medicine †Pediatric Hematology/Oncology, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia.

Wilms tumor (WT) is the most common neoplasm of the kidney in children. It is an embryologic tumor that histologically mimics renal embryogenesis and is composed of a variable mixture of stromal, blastemal, and epithelial elements. Nephrogenic rests, generally considered to be precursor lesions of the WT, are foci of the embryonic metanephric tissue that persist after the completion of renal embryogenesis. Read More

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May 2014
1 Read

A de novo 11p13 Microduplication in a Patient with Some Features Invoking Silver-Russell Syndrome.

Mol Syndromol 2014 Jan 28;5(1):11-8. Epub 2013 Nov 28.

Medical Genetics Unit, P.O. Vittorio Emanuele III, Gela, Italy.

Patients with Silver-Russell syndrome (SRS) show an intrauterine and postnatal growth restriction associated with a variable spectrum of additional features. Genetic or epigenetic alterations on chromosomes 7 and 11 can be detected in several SRS patients; however, a large fraction of cases remains with unknown genetic etiology. Here, we describe the clinical and molecular findings of a patient with a phenotype invoking SRS showing intrauterine and postnatal growth retardation, psychomotor retardation, relative macrocephaly, slightly triangular face with pointed chin, clinodactyly, and a slight body asymmetry, in whom single-nucleotide polymorphism oligonucleotide array analysis led to the identification of a de novo 11p13 duplication containing many genes that could be functionally related with the observed clinical features. Read More

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January 2014
1 Read

LGR4/GPR48 inactivation leads to aniridia-genitourinary anomalies-mental retardation syndrome defects.

J Biol Chem 2014 Mar 11;289(13):8767-80. Epub 2014 Feb 11.

From the Institute of Biosciences and Technology and Department of Molecular and Cellular Medicine, Texas A&M University Health Science Center, Houston, Texas 77030 and.

AGR syndrome (the clinical triad of aniridia, genitourinary anomalies, and mental retardation, a subgroup of WAGR syndrome for Wilm's tumor, aniridia, genitourinary anomalies, and mental retardation) is a rare syndrome caused by a contiguous gene deletion in the 11p13-14 region. However, the mechanisms of WAGR syndrome pathogenesis are elusive. In this study we provide evidence that LGR4 (also named GPR48), the only G-protein-coupled receptor gene in the human chromosome 11p12-11p14. Read More

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March 2014
4 Reads
7 Citations
4.570 Impact Factor

Narrowing of the responsible region for severe developmental delay and autistic behaviors in WAGR syndrome down to 1.6 Mb including PAX6, WT1, and PRRG4.

Am J Med Genet A 2014 Mar 19;164A(3):634-8. Epub 2013 Dec 19.

Tokyo Women's Medical University Institute for Integrated Medical Sciences (TIIMS), Tokyo, Japan.

Interstitial deletions of the 11p13 region are known to cause WAGR (Wilms tumor, aniridia, genitourinary malformation, and "mental retardation") syndrome, a contiguous gene deletion syndrome due to haploinsufficiencies of the genes in this region, including WT1 and PAX6. Developmental delay and autistic features are major complications of this syndrome. Previously, some genes located in this region have been suggested as responsible for autistic features. Read More

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March 2014
18 Reads

Array CGH analysis of a cohort of Russian patients with intellectual disability.

Gene 2014 Feb 27;536(1):145-50. Epub 2013 Nov 27.

Institute of Medical Genetics, Tomsk, Russia.

The use of array comparative genomic hybridization (array CGH) as a diagnostic tool in molecular genetics has facilitated the identification of many new microdeletion/microduplication syndromes (MMSs). Furthermore, this method has allowed for the identification of copy number variations (CNVs) whose pathogenic role has yet to be uncovered. Here, we report on our application of array CGH for the identification of pathogenic CNVs in 79 Russian children with intellectual disability (ID). Read More

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February 2014
11 Reads
11 Citations
2.140 Impact Factor

Rapid and inexpensive screening of genomic copy number variations using a novel quantitative fluorescent PCR method.

Dis Markers 2013 30;35(6):589-94. Epub 2013 Oct 30.

GENE-Núcleo de Genética Médica, Avenida Afonso Pena 3111, 9th Floor, 30130-909 Belo Horizonte, MG, Brazil.

Detection of human microdeletion and microduplication syndromes poses significant burden on public healthcare systems in developing countries. With genome-wide diagnostic assays frequently inaccessible, targeted low-cost PCR-based approaches are preferred. However, their reproducibility depends on equally efficient amplification using a number of target and control primers. Read More

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July 2014
2 Reads

Long-term outcome in pediatric renal tumor survivors: experience of a single center.

J Pediatr Hematol Oncol 2013 Nov;35(8):610-3

Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Bangkok, Thailand.

Medical records of 30 children with renal tumor diagnosed at Siriraj Hospital during 1996 to 2007 were reviewed. Mean age at diagnosis was 36 months; male to female ratio was 1.7:1. Read More

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November 2013
1 Read

Facial dysostoses: Etiology, pathogenesis and management.

Am J Med Genet C Semin Med Genet 2013 Nov 4;163C(4):283-94. Epub 2013 Oct 4.

Approximately 1% of all live births exhibit a minor or major congenital anomaly. Of these approximately one-third display craniofacial abnormalities which are a significant cause of infant mortality and dramatically affect national health care budgets. To date, more than 700 distinct craniofacial syndromes have been described and in this review, we discuss the etiology, pathogenesis and management of facial dysostoses with a particular emphasis on Treacher Collins, Nager and Miller syndromes. Read More

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November 2013
7 Reads

Malformations, genetic abnormalities, and Wilms tumor.

Pediatr Blood Cancer 2014 Jan 23;61(1):140-4. Epub 2013 Aug 23.

Department of Pediatric Oncology, Institut Curie, Paris, France.

Background: Wilms Tumor (WT) can occur in association with tumor predisposition syndromes and/or with clinical malformations. These associations have not been fully characterized at a clinical and molecular genetic level. This study aims to describe clinical malformations, genetic abnormalities, and tumor predisposition syndromes in patients with WT and to propose guidelines regarding indications for clinical and molecular genetic explorations. Read More

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January 2014
2 Reads

[Typical WAGR syndrome in a case].

Zhonghua Er Ke Za Zhi 2013 Mar;51(3):237-9

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March 2013
4 Reads

WT1 microdeletion and slowly progressing focal glomerulosclerosis in a patient with male pseudohermaphroditism, childhood leukemia, Wilms tumor and cerebellar angioblastoma.

Clin Nephrol 2013 May;79(5):414-8

Department of Human Genetics, University of Debrecen, Debrecen, Hungary.

The Wilms tumor 1 (WT1) gene is currently in focus by pediatric nephrologists as its mutations are associated with nephrotic syndrome, especially as part of complex clinical entities like Denys-Drash or Frasier syndrome. Renal failure may also develop in young WAGR patients, whose condition is attributed to a deletion at chromosomal region 11p13. However, only limited data exist on WT1 microdeletions. Read More

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May 2013
8 Reads

Association of brain-derived neurotrophic factor (BDNF) haploinsufficiency with lower adaptive behaviour and reduced cognitive functioning in WAGR/11p13 deletion syndrome.

Cortex 2013 Nov-Dec;49(10):2700-10. Epub 2013 Feb 19.

Unit on Metabolism and Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, Bethesda, MD, USA; Section on Growth and Obesity, Program in Developmental Endocrinology and Genetics, NICHD, National Institutes of Health, Bethesda, MD, USA. Electronic address:

In animal studies, brain-derived neurotrophic factor (BDNF) is an important regulator of central nervous system development and synaptic plasticity. WAGR (Wilms tumour, Aniridia, Genitourinary anomalies, and mental Retardation) syndrome is caused by 11p13 deletions of variable size near the BDNF locus and can serve as a model for studying human BDNF haploinsufficiency (+/-). We hypothesized that BDNF+/- would be associated with more severe cognitive impairment in subjects with WAGR syndrome. Read More

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July 2014
14 Reads

The modifier effect of the BDNF gene in the phenotype of the WAGRO syndrome.

Gene 2013 Mar 21;516(2):285-90. Epub 2012 Dec 21.

Genetics Unit, Infanta Cristina Hospital, Badajoz, Spain.

Individuals who are carriers of deletions of various sizes that cause haploinsufficiency in the contiguous WT1 and PAX6 genes, located on chromosome 11p13 approximately 4 Mb centromeric to the BDNF gene, are susceptible to Wilms tumor, aniridia, mental retardation, genitourinary anomalies and obesity (WAGRO syndrome). The molecular characterization of the wide deletion 11p15.1p12 arr (18676926-36576388) x1 dn in a child with 3 years and 4 months of age only affected by aniridia, predicts not only other serious associated diseases, but also allows us to hypothesize a specific phenotype of mental impairment, conduct alterations and childhood obesity, possibly added to the onset of metabolic alterations. Read More

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March 2013
5 Reads

Bezafibrate to prevent relapsing pancreatitis in WAGR syndrome.

BMJ Case Rep 2012 Nov 14;2012. Epub 2012 Nov 14.

Department of Paediatric Endocrinology, Royal Manchester Children's Hospital, Manchester, UK.

Recurrent episodes of acute, severe pancreatitis are a feature of the rare WAGR congenital anomaly syndrome. Although pancreatitis is well recognised as a life-threatening association of WAGR syndrome, treatment to prevent pancreatitis is not recommended. We report the successful prevention of hypertriglyceridaemia-associated relapsing pancreatitis in a child with WAGR syndrome with Bezafibrate. Read More

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November 2012
3 Reads

A case of 9.7 Mb terminal Xp deletion including OA1 locus associated with contiguous gene syndrome.

J Korean Med Sci 2012 Oct 2;27(10):1273-7. Epub 2012 Oct 2.

Greencross Reference Laboratory, Seoul, Korea.

Terminal or interstitial deletions of Xp (Xp22.2→Xpter) in males have been recognized as a cause of contiguous gene syndromes showing variable association of apparently unrelated clinical manifestations such as Leri-Weill dyschondrosteosis (SHOX), chondrodysplasia punctata (CDPX1), mental retardation (NLGN4), ichthyosis (STS), Kallmann syndrome (KAL1), and ocular albinism (GPR143). Here we present a case of a 13. Read More

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October 2012
2 Reads

Diffuse mesangial sclerosis - Report of two cases.

Indian J Nephrol 2012 May;22(3):213-6

Department of Pathology, Manipal Hospital, Bangalore, India.

Diffuse mesangial sclerosis (DMS) is a rare cause of nephrotic syndrome in the infantile and childhood period. DMS is a phenotypic expression of syndromic entities such as WAGR syndrome (Wilms' tumor, aniridia, genitourinary anomalies and mental retardation), Denys Drash syndrome, Pierson syndrome, Frasier syndrome, or Galloway-Mowat syndrome. We report two cases of DMS, one presenting in first year of life and another in second decade of life. Read More

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May 2012
2 Reads

Nephron sparing surgery for unilateral Wilms tumor in children with predisposing syndromes: single center experience over 10 years.

J Urol 2012 Oct 19;188(4 Suppl):1493-8. Epub 2012 Aug 19.

Division of Urology, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.

Purpose: Unilateral Wilms tumors associated with predisposing syndromes are treated with preoperative chemotherapy followed by surgical resection. We describe our experience with nephron sparing surgery for Wilms tumor in this population at risk for metachronous lesions.

Materials And Methods: We conducted a retrospective review of all children with a predisposing syndrome who underwent nephrectomy for malignancy during a 10-year period (2000 to 2010). Read More

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October 2012
6 Reads

Frequency of WT1 and 11p15 constitutional aberrations and phenotypic correlation in childhood Wilms tumour patients.

Eur J Cancer 2012 Nov 14;48(17):3249-56. Epub 2012 Jul 14.

Department of Pediatric Oncology/Hematology, Erasmus MC-Sophia Children's Hospital, Rotterdam, The Netherlands.

Introduction: In 9-17% of Wilms tumour patients a predisposing syndrome is present, in particular WT1-associated syndromes and overgrowth syndromes. Constitutional WT1 mutations or epigenetic changes on chromosome 11p15 have also been described in Wilms tumour patients without phenotypic abnormalities. Thus, the absence of phenotypic abnormalities does not exclude the presence of a genetic predisposition, suggesting that more Wilms tumour patients may have a constitutional abnormality. Read More

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November 2012
4 Reads