234 results match your criteria WAGR Syndrome


Many faces of Wilms Tumor: Recent advances and future directions.

Ann Med Surg (Lond) 2021 Apr 7;64:102202. Epub 2021 Mar 7.

Deptt. of Pathology, North DMC Medical College and Hindu Rao Hospital, New Delhi, India.

Background: Wilms' tumor (WT) is the most frequently occurring paediatric renal tumor and is one of the most treatment-responsive tumors. A tumor-suppressor gene and other genetic abnormalities have been implicated in its etiology. In addition, patients with many congenital anomalies, such as Beckwith-Wiedemann syndrome, WAGR syndrome and Denys-Drash syndrome, have an increased risk of WT. Read More

View Article and Full-Text PDF

Endogenous melatonin and sleep in individuals with Rare Genetic Neurodevelopmental Disorders (RGND): A systematic review.

Sleep Med Rev 2021 Jan 17;57:101433. Epub 2021 Jan 17.

Mental Health Division, Canterbury District Health Board, New Zealand.

Individuals with Rare Genetic Neurodevelopmental Disorders (RGND) present with significant sleep problems and circadian rhythm abnormalities of uncertain aetiology. Abnormal melatonin secretion may play a role in sleep disturbance in individuals with higher incidence developmental disabilities, however, RGND research is limited. This review compared the melatonin profiles in a range of RGND with that of the general population and considered the impact of any differences on sleep. Read More

View Article and Full-Text PDF
January 2021

WAGR syndrome.

Kidney Int 2021 01;99(1):271

Department of Nephrology, Teine Keijinkai Medical Center, Sapporo, Hokkaido, Japan.

View Article and Full-Text PDF
January 2021

A rare case of an isolated PAX6 mutation, aniridia, and Wilms tumor.

Ophthalmic Genet 2021 04 10;42(2):216-217. Epub 2020 Dec 10.

Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO, USA.

Wilms tumor (WT) is the most common renal malignancy of children and can be seen in WAGR syndrome (WT, aniridia, genitourinary anomalies, and intellectual disability). WAGR results from a contiguous gene deletion within the 11p13 region, encompassing the WT1 gene, often responsible for WT development, and the PAX6 gene, responsible for aniridia. Aniridia, a pan-ocular disease resulting from iris hypoplasia, is thought to increase the risk for WT development if their genetic alteration spans both the WT1 and the PAX6 genes on 11p13. Read More

View Article and Full-Text PDF

Syndromic Wilms tumor: a review of predisposing conditions, surveillance and treatment.

Transl Androl Urol 2020 Oct;9(5):2370-2381

Pediatric Urology, Children's Hospital of Michigan, Detroit, MI, USA.

Predisposing syndromes associated with an increased risk of Wilms tumor (WT) are responsible for 9-17% of all cases of the malignancy. Due to an earlier age at WT diagnosis and an increased incidence of bilateral and metachronous disease, management of syndromic WT warrants a distinct approach from that of non-syndromic WT. This review of English-language manuscripts about WT focuses on the most common syndromes, surveillance protocols and current treatment strategies. Read More

View Article and Full-Text PDF
October 2020

Clinical characteristics and outcomes of children with WAGR syndrome and Wilms tumor and/or nephroblastomatosis: The 30-year SIOP-RTSG experience.

Cancer 2021 Feb 4;127(4):628-638. Epub 2020 Nov 4.

Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.

Background: WAGR syndrome (Wilms tumor, aniridia, genitourinary anomalies, and range of developmental delays) is a rare contiguous gene deletion syndrome with a 45% to 60% risk of developing Wilms tumor (WT). Currently, surveillance and treatment recommendations are based on limited evidence.

Methods: Clinical characteristics, treatments, and outcomes were analyzed for patients with WAGR and WT/nephroblastomatosis who were identified through International Society of Pediatric Oncology Renal Tumor Study Group (SIOP-RTSG) registries and the SIOP-RTSG network (1989-2019). Read More

View Article and Full-Text PDF
February 2021

A sporadic case of congenital aniridia caused by pericentric inversion inv(11)(p13q14) associated with a 977 kb deletion in the 11p13 region.

BMC Med Genomics 2020 09 18;13(Suppl 8):130. Epub 2020 Sep 18.

Research Centre for Medical Genetics, Moscow, Russian Federation.

Background: Because of the significant occurrence of "WAGR-region" deletions among de novo mutations detected in congenital aniridia, DNA diagnosis is critical for all sporadic cases of aniridia due to its help in making an early diagnosis of WAGR syndrome. Standard cytogenetic karyotype study is a necessary step of molecular diagnostics in patients with deletions and in the patients' parents as it reveals complex chromosomal rearrangements and the risk of having another affected child, as well as to provide prenatal and/or preimplantation diagnostics.

Case Presentation: DNA samples were obtained from the proband (a 2-year-old boy) and his two healthy parents. Read More

View Article and Full-Text PDF
September 2020

Pediatric Delayed Union in the Presence of WAGR Syndrome.

J Am Podiatr Med Assoc 2020 Sep 10. Epub 2020 Sep 10.

In this study, we present the management of an intra-articular fracture in a 13-year-old boy with WAGR Syndrome, an extremely rare genetic disorder. The goal of this study is to provide possible solutions to the complex pain management requirements presenting in the setting of trauma to the right lower extremity. Given the scarcity of literature available with regard to this condition, we not only aim to increase awareness of the disease, but provide insight into trauma management and expected outcomes. Read More

View Article and Full-Text PDF
September 2020

Preferentially Paternal Origin of De Novo 11p13 Chromosome Deletions Revealed in Patients with Congenital Aniridia and WAGR Syndrome.

Genes (Basel) 2020 07 17;11(7). Epub 2020 Jul 17.

Research Centre for Medical Genetics, 115522 Moscow, Russia.

The frequency of pathogenic large chromosome rearrangements detected in patients with different Mendelian diseases is truly diverse and can be remarkably high. Chromosome breaks could arise through different known mechanisms. Congenital -associated aniridia is a hereditary eye disorder caused by mutations or chromosome rearrangements involving the gene. Read More

View Article and Full-Text PDF

Results of Treatment for Patients With Multicentric or Bilaterally Predisposed Unilateral Wilms Tumor (AREN0534): A report from the Children's Oncology Group.

Cancer 2020 08 27;126(15):3516-3525. Epub 2020 May 27.

Children's National Hospital, George Washington University School of Medicine and Health Sciences, Washington, District of Columbia, USA.

Background: A primary objective of Children's Oncology Group study AREN0534 (Treatment for Patients With Multicentric or Bilaterally Predisposed, Unilateral Wilms Tumor) was to facilitate partial nephrectomy in 25% of children with bilaterally predisposed unilateral tumors (Wilms tumor/aniridia/genitourinary anomalies/range of developmental delays [WAGR] syndrome; and multifocal and overgrowth syndromes). The purpose of this prospective study was to achieve excellent event-free survival (EFS) and overall survival (OS) while preserving renal tissue through preoperative chemotherapy, completing definitive surgery by 12 weeks from diagnosis, and modifying postoperative chemotherapy based on histologic response.

Methods: The treating institution identified whether a predisposition syndrome existed. Read More

View Article and Full-Text PDF

Identification of a 6-month-old baby with a combination of WAGR and Potocki-Shaffer contiguous deletion syndromes by SNP array testing.

Hereditas 2020 May 23;157(1):23. Epub 2020 May 23.

Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing, 100191, China.

WAGR 11p13 deletion syndrome is associated with abnormalities including (W) ilms tumor, (A) niridia, (G) enitourinary abnormalities, and growth and mental (R) etardation (WAGR). Potocki-Schaffer syndrome is a contiguous gene syndrome associated with deletions in 11p11.2, principal features of which are multiple exostoses, parietal foramina development delay, mental retardation, and facial dysmorphism. Read More

View Article and Full-Text PDF

Bilateral aniridia and congenital ureteral valve: Role of genetic testing.

Mol Genet Genomic Med 2020 04 14;8(4):e1183. Epub 2020 Feb 14.

Norton Children's Urology, Norton Healthcare, Louisville, KY, USA.

Background: Congenital aniridia involves total or partial hypoplasia of the iris and is due to a deficiency in PAX6 gene expression. WAGR syndrome is comprised of Wilms tumor, aniridia, genitourinary abnormalities, and intellectual disability. Numerous genitourinary pathologies may be associated with WAGR syndrome, necessitating an evaluation of the genitourinary anatomy. Read More

View Article and Full-Text PDF

Central Corneal Pyogenic Granuloma in Aniridia.

Ophthalmology 2020 02;127(2):197

Fondation A. de Rothschild, Ophthalmology Department, Paris, France; Paris-Diderot University, Paris, France.

View Article and Full-Text PDF
February 2020

[WAGR syndrome by heterozygous deletion of the WT1 gene. Pediatric case report].

Arch Argent Pediatr 2019 10;117(5):e505-e508

Grupo de Investigación en Genética Humana UIS; docente de planta, Departamento de Ciencias Básicas, Facultad de Salud, Universidad Industrial de Santander, Departamento de Pediatría, Hospital Universitario de Santander.

WAGR syndrome (Wilms tumor, aniridia, genitourinary anomalies and mental retardation) is an uncommon genetic disorder due to the deletion of the 11p13 region that contains the WT1 and PAX6 genes. It involves a distinctive combination of clinical conditions, with aniridia and Wilms tumor being the most notable. We present a 17-month-old infant with microcephaly, ocular alterations (buphthalmos, leukocoria, bilateral aniridia), scrotal hypoplasia, undescended testes and neurodevelopmental delay who underwent multiplex ligation-dependent probe amplification study for WT1, showing haploinsufficiency in the probes that hybridize to the 11p13 region, compatible with an heterozygous deletion of the gene. Read More

View Article and Full-Text PDF
October 2019

Novel Intragenic Deletion in a Pedigree with Aniridia, Morbid Obesity, and Diabetes.

Curr Eye Res 2020 01 14;45(1):91-96. Epub 2019 Aug 14.

Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, IA, USA.

: Aniridia is a rare congenital eye disease, characterized by a constellation of symptoms including hypoplastic irides, foveal hypoplasia, early cataract, corneal stem cell deficiency, and glaucoma. Large chromosomal deletions spanning the gene cause WAGR syndrome (Wilms tumor, aniridia, genitourinary anomalies, and intellectual disability [formerly called mental retardation]). We describe clinical and genetic studies of a three-generation pedigree with aniridia along with additional systemic conditions (morbid obesity, diabetes) suggesting the possibility of a contiguous-gene syndrome like WAGR. Read More

View Article and Full-Text PDF
January 2020

LMO2 gene deletions significantly worsen the prognosis of Wilms' tumor development in patients with WAGR syndrome.

Hum Mol Genet 2019 10;28(19):3323-3326

Research Center for Medical Genetics, Moscow 115522, Russia.

WAGR syndrome (OMIM #194072) is a rare genetic disorder that consists of development of Wilms' tumor (nephroblastoma), aniridia, genitourinary anomalies and intellectual disability (mental retardation). It is associated with WAGR-region deletions in the 11p13 chromosome region. Our previous study of congenital aniridia patients revealed a noticeable number of aniridia patients with WAGR-region deletions but without Wilms' tumor in their medical history. Read More

View Article and Full-Text PDF
October 2019

WAGRO syndrome: a rare genetic condition associated with aniridia and additional ophthalmologic abnormalities.

Arq Bras Oftalmol 2019 05 20;82(4):336-338. Epub 2019 May 20.

Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, RS, Brazil.

Aniridia is a congenital eye disorder with a variable degree of hypoplasia or absence of iris tissue. It is caused by loss of function of the PAX6 gene and may be an isolated ocular abnormality or part of a syndrome. WAGRO refers to a rare genetic condition leading to Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity and is caused by a deletion of the short arm of chromosome 11 (11p), where the PAX6 gene is located. Read More

View Article and Full-Text PDF

[Congenital aniridia in children].

Rev Prat 2019 Jan;69(1):67-70

Service d'ophtalmologie, hôpital Necker Enfants-malades, AP-HP, centre de maladies rares OPHTARA, université Paris-Descartes, université Sorbonne-Paris-Cité, Paris, France. Unité CNRS FR3636, université Paris-Descartes, université Sorbonne-Paris-Cité, Paris, France. Coordonnateur du Centre OPHTARA maladies rares en Ophtalmologie, Centre Européen ERN EYE. Présidente du CMS Geniris et Aniridia Europe.

Congenital aniridia in children. Congenital aniridia is a genetic rare disease that affects the entire eyeball (pan-ocular disease). The disease is characterized by partial or complete absence of iris. Read More

View Article and Full-Text PDF
January 2019

Haploinsufficiency of the brain-derived neurotrophic factor gene is associated with reduced pain sensitivity.

Pain 2019 05;160(5):1070-1081

Pediatrics and Developmental Neuropsychiatry Branch, National Institute of Mental Health (NIH), Bethesda, MD, United States.

Rare pain-insensitive individuals offer unique insights into how pain circuits function and have led to the development of new strategies for pain control. We investigated pain sensitivity in humans with WAGR (Wilms tumor, aniridia, genitourinary anomaly, and range of intellectual disabilities) syndrome, who have variably sized heterozygous deletion of the 11p13 region. The deletion region can be inclusive or exclusive of the brain-derived neurotrophic factor (BDNF) gene, a crucial trophic factor for nociceptive afferents. Read More

View Article and Full-Text PDF

The genetic architecture of aniridia and Gillespie syndrome.

Hum Genet 2019 Sep 22;138(8-9):881-898. 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

View Article and Full-Text PDF
September 2019

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

View Article and Full-Text PDF
December 2017

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

View Article and Full-Text PDF

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

View Article and Full-Text PDF
October 2017

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

View Article and Full-Text PDF

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

View Article and Full-Text PDF