248 results match your criteria WAGR Syndrome


Thirty Years' History since the Discovery of Pax6: From Central Nervous System Development to Neurodevelopmental Disorders.

Int J Mol Sci 2022 May 30;23(11). Epub 2022 May 30.

Department of Developmental Neuroscience, Tohoku University Graduate School of Medicine, Sendai 980-8575, Japan.

Pax6 is a sequence-specific DNA binding transcription factor that positively and negatively regulates transcription and is expressed in multiple cell types in the developing and adult central nervous system (CNS). As indicated by the morphological and functional abnormalities in spontaneous mutant rodents, Pax6 plays pivotal roles in various biological processes in the CNS. At the initial stage of CNS development, Pax6 is responsible for brain patterning along the anteroposterior and dorsoventral axes of the telencephalon. Read More

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[National protocol for diagnosis and care of congenital aniridia: Summary for the attending physician].

J Fr Ophtalmol 2022 Jun;45(6):647-652

Inserm 1138, T17, université de Paris, Paris, France; Laboratoire de génétique moléculaire, centre hospitalier universitaire Necker-Enfants Malades, AP-HP, université de Paris, Paris, France.

Congenital aniridia is a rare panocular disease defined by a national diagnostic and care protocol (PNDS) validated by the HAS. In most cases, it is due to an abnormality in the PAX6 gene, located at 11p13. Aniridia is a potentially blinding autosomal dominant disease with high penetrance. Read More

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[A case with WAGR syndrome diagnosed and treated by multidisciplinary combination].

Zhonghua Er Ke Za Zhi 2022 Apr;60(4):358-360

Department of Rehabilitation, Qilu Children's Hospital of Shandong University, Jinan 250022, China.

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WAGR, Sex Reversal, Bilateral Gonadoblastomas, and Intralobar Nephrogenic Rests: Uncertainties of Pre-Biopsy Chemotherapy in a High Risk Syndrome for Nephroblastoma.

Fetal Pediatr Pathol 2022 Feb 24:1-9. Epub 2022 Feb 24.

Department of Urology, Louisiana State University Health Sciences Center, New Orleans, LA, USA.

WT1 deletions are associated with nephroblastomas, WT mutations are associated with 46, XY sex reversal. It is unclear why only a few WT1 deletions are associated with sex reversal. . Read More

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February 2022

Wilms tumor in horseshoe kidney in case of WAGR syndrome with multiple congenital anomalies: A cytologic diagnosis.

Indian J Pathol Microbiol 2022 Jan-Mar;65(1):230-232

Department of Pathology, Jawaharlal Institute of Post graduate Medical Education and Research, Puducherry; Department of Pathology, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India.

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February 2022

Results From the WAGR Syndrome Patient Registry: Characterization of WAGR Spectrum and Recommendations for Care Management.

Front Pediatr 2021 14;9:733018. Epub 2021 Dec 14.

Division of Human Genetics and Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Philadelphia, PA, United States.

WAGR syndrome is a rare genetic disorder characterized by Wilms tumor, Aniridia, Genitourinary anomalies, and Range of developmental delays. In addition to the classic features, patients affected by WAGR syndrome can develop obesity and kidney failure, and a wide variety of non-classical manifestations have also been described. This suggests that a broader phenotypic spectrum beyond the classic syndrome exists and here we demonstrate that spectrum using data from the WAGR Syndrome Patient Registry. Read More

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December 2021

The Largest Germline Heterozygous Deletion Encompassing Potocki-Shaffer and WAGR Syndromes Loci to Date: A Case Report.

Neuropediatrics 2021 Dec 8. Epub 2021 Dec 8.

Oncobiologie Génétique Bioinformatique, PCBio, Centre Hospitalier Universitaire de Besançon, Besançon, France.

Potocki-Schaffer syndrome includes multiple exostoses, parietal foramina, and variable developmental delay/intellectual disability. It is associated with a heterozygous deletion of the 11p12p11.2 region. Read More

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December 2021

Neuropsychological and neurophysiological features of WAGR syndrome: Detailed comprehensive evaluation of a patient with severe intellectual disability and autism spectrum disorder.

Brain Dev 2022 Mar 6;44(3):229-233. Epub 2021 Dec 6.

Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan; Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan; Research Center for Supports to Advanced Science, Shinshu University, Matsumoto, Japan; Division of Clinical Sequencing, Shinshu University School of Medicine, Matsumoto, Japan. Electronic address:

Background: Wilms' tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR) syndrome is a contiguous gene deletion syndrome caused by a de novo deletion including the 11p13 region. Although autism spectrum disorder (ASD) is frequently observed in patients with WAGR syndrome, few reports have comprehensively described its characteristics. We herein present the detailed neuropsychological and neurophysiological findings of a patient with WAGR syndrome complicated with severe psychomotor developmental delay and ASD. Read More

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Genetics and epidemiology of aniridia: Updated guidelines for genetic study.

Arch Soc Esp Oftalmol (Engl Ed) 2021 Nov 22;96 Suppl 1:4-14. Epub 2021 Oct 22.

Departamento de Genética, Hospital Universitario Fundación Jiménez Díaz, Madrid, Spain; Área de Genética & Genómica, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz - Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain; Centro de Investigación en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain. Electronic address:

Aniridia is a panocular disease characterized by iris hypoplasia, accompanied by other ocular manifestations, with a high clinical variability and overlapping with different abnormalities of the anterior and posterior segment. This review focuses on the genetic features of this autosomal dominant pathology, which is caused by the haploinsufficiency of the PAX6 gene. Mutations causing premature stop codons are the most frequent among the wider mutational spectrum of PAX6, with more than 600 different mutations identified so far. Read More

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November 2021

Characteristics of Nephroblastoma/Nephroblastomatosis in Children with a Clinically Reported Underlying Malformation or Cancer Predisposition Syndrome.

Cancers (Basel) 2021 Oct 7;13(19). Epub 2021 Oct 7.

Department of Pediatric Oncology and Hematology, Saarland University, 66421 Homburg, Germany.

(1) Background: about 10% of Wilms Tumor (WT) patients have a malformation or cancer predisposition syndrome (CPS) with causative germline genetic or epigenetic variants. Knowledge on CPS is essential for genetic counselling. (2) Methods: this retrospective analysis focused on 2927 consecutive patients with WTs registered between 1989 and 2017 in the SIOP/GPOH studies. Read More

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October 2021

Bitot-like spots in children with normal vitamin A levels.

Eye (Lond) 2021 Sep 16. Epub 2021 Sep 16.

Department of Ophthalmology and Vision Sciences, Faculty of Medicine, University of Toronto, Toronto, ON, Canada.

Background/aims: A Bitot spot is a conjunctival lesion, classically associated with severe vitamin A deficiency. In this paediatric series, we describe conjunctival lesions indistinguishable from Bitot spots, seen in the presence of normal vitamin A levels.

Methods: This descriptive case series was performed by retrospective review of case notes, including all patients with Bitot-like spots found to have normal serum vitamin A levels, seen at the Hospital for Sick Children, Toronto, between 2006 and 2016. Read More

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September 2021

Sequences of COVID-19 in a child with WAGR syndrome: A case report.

Ann Med Surg (Lond) 2021 Sep 17;69:102732. Epub 2021 Aug 17.

Faculty of Medicine, Damascus University, Damascus, Syria.

Introduction: and importance: WAGR syndrome is a rare genetic disorder consist of Wilms tumor, Aniridia, Genitourinary abnormalities, and Intellectual disability. During the enduring COVID-19 pandemic, it has become extremely important to document the properties of SARS-CoV-2 and its interactions with other diseases. Herein, we present the first case of Syrian child with WAGR syndrome that has been affected by COVID-19. Read More

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September 2021

Genetics and epidemiology of aniridia: Updated guidelines for genetic study.

Arch Soc Esp Oftalmol (Engl Ed) 2021 Jul 6. Epub 2021 Jul 6.

Departamento de Genética, Hospital Universitario Fundación Jiménez Díaz, Madrid, España; Área de Genética & Genómica, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz - Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, España; Centro de Investigación en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, España. Electronic address:

Aniridia is a panocular disease characterized by iris hypoplasia, accompanied by other ocular manifestations, with a high clinical variability and overlapping with different abnormalities of the anterior and posterior segment. This review focuses on the genetic features of this autosomal dominant pathology, which is caused by the haploinsufficiency of the PAX6 gene. Mutations causing premature stop codons are the most frequent among the wider mutational spectrum of PAX6, with more than 600 different mutations identified so far. Read More

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Risk factors for post-nephrectomy hypotension in pediatric patients.

Pediatr Nephrol 2021 11 14;36(11):3699-3709. Epub 2021 May 14.

Division of Nephrology and Rheumatology, National Center for Child Health and Development, 2-10-1, Okura, Setagaya-ku, Tokyo, 157-8535, Japan.

Background: Although hypotension is a life-threatening complication of nephrectomy in children, risk factors for its development remain unknown. We evaluated the incidence, clinical course, and associated risk factors of pediatric post-nephrectomy hypotension in an observational study.

Methods: This retrospective observational study included the clinical data of children who underwent nephrectomy in our center between 2002 and 2020. Read More

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November 2021

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

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

Sleep Med Rev 2021 06 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

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WAGR syndrome.

Kidney Int 2021 01;99(1):271

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

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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

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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

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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 02 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

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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

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September 2020

Pediatric Delayed Union in the Presence of WAGR Syndrome.

J Am Podiatr Med Assoc 2021 May;111(3)

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 was 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 aim to not only increase awareness of the disease but also provide insight into trauma management and expected outcomes. Read More

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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

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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

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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

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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

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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.

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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

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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

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January 2020