224 results match your criteria WAGR Syndrome


Results of treatment for patients with multicentric or bilaterally predisposed unilateral Wilms tumor (AREN0534): A report from the Children's Oncology Group.

Cancer 2020 May 27. 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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http://dx.doi.org/10.1002/cncr.32958DOI Listing

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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http://dx.doi.org/10.1186/s41065-020-00132-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7245943PMC

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

Mol Genet Genomic Med 2020 Apr 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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http://dx.doi.org/10.1002/mgg3.1183DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7196450PMC

[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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http://dx.doi.org/10.5546/aap.2019.e505DOI Listing
October 2019
2 Reads

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

Curr Eye Res 2020 Jan 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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http://dx.doi.org/10.1080/02713683.2019.1649704DOI Listing
January 2020
7 Reads

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

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http://dx.doi.org/10.1093/hmg/ddz168DOI Listing
October 2019
2 Reads

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

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http://dx.doi.org/10.5935/0004-2749.20190065DOI Listing
May 2019
8 Reads
0.440 Impact Factor

[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

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January 2019
5 Reads

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

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http://dx.doi.org/10.1097/j.pain.0000000000001485DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6476691PMC
May 2019
19 Reads

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

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http://dx.doi.org/10.1007/s00439-018-1934-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6710220PMC
September 2019
5 Reads

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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http://dx.doi.org/10.2478/prilozi-2018-0013DOI Listing
December 2017
20 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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http://dx.doi.org/10.1016/j.urology.2018.03.003DOI Listing
June 2018
1 Read

An X-linked agammaglobulinemia contiguous gene syndrome with metachronous coprimary testicular cancers.

Ann Allergy Asthma Immunol 2018 Feb 4;120(2):215-217. Epub 2018 Jan 4.

Geisel School of Medicine at Dartmouth, Hanover, New Hampshire.

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http://dx.doi.org/10.1016/j.anai.2017.11.017DOI Listing
February 2018
10 Reads

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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http://dx.doi.org/10.1186/s12881-017-0477-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5654094PMC
October 2017
54 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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http://dx.doi.org/10.1371/journal.pgen.1006865DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5578492PMC
August 2017
38 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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http://dx.doi.org/10.5604/01.3001.0010.3840DOI Listing
July 2017
52 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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http://link.springer.com/10.1007/s00383-017-4091-6
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http://dx.doi.org/10.1007/s00383-017-4091-6DOI Listing
July 2017
41 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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http://dx.doi.org/10.1002/ajmg.a.38206DOI Listing
June 2017
93 Reads
2.159 Impact Factor

The Directions Are on the Box.

J Pediatr Ophthalmol Strabismus 2017 Mar;54(2):75-76

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http://dx.doi.org/10.3928/01913913-20170210-01DOI Listing
March 2017
1 Read

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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http://dx.doi.org/10.1111/cge.13019DOI Listing
December 2017
144 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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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0172363PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5322952PMC
August 2017
26 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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http://dx.doi.org/10.1007/s00383-016-4047-2DOI Listing
April 2017
52 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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http://dx.doi.org/10.3345/kjp.2016.59.11.S1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5177687PMC
November 2016
18 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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http://dx.doi.org/10.1016/j.mcp.2016.12.001DOI Listing
April 2017
29 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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https://www.spandidos-publications.com/10.3892/mco.2016.1004
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http://dx.doi.org/10.3892/mco.2016.1004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5103847PMC
November 2016
40 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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http://jcdr.net/article_fulltext.asp?issn=0973-709x&year
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http://dx.doi.org/10.7860/JCDR/2016/18703.8165DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5020177PMC
July 2016
12 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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http://dx.doi.org/10.1093/nar/gkw766DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5137435PMC
December 2016
37 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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http://link.springer.com/10.1007/978-1-4939-4023-3_2
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http://dx.doi.org/10.1007/978-1-4939-4023-3_2DOI Listing
January 2018
7 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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http://dx.doi.org/10.1016/bs.pmbts.2015.12.002DOI Listing
June 2017
5 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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http://dx.doi.org/10.1007/s00467-016-3343-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5118406PMC
December 2016
12 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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http://dx.doi.org/10.3109/13816810.2015.1059459DOI Listing
September 2016
26 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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http://downloads.hindawi.com/journals/criog/2015/928585.pdf
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http://www.hindawi.com/journals/criog/2015/928585/
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http://dx.doi.org/10.1155/2015/928585DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4641202PMC
November 2015
16 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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http://dx.doi.org/10.1007/s11547-015-0572-7DOI Listing
May 2016
26 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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http://dx.doi.org/10.2147/OPTH.S80444DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4474385PMC
June 2015
3 Reads

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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https://www.thieme-connect.com/products/ejournals/pdf/10.105
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http://dx.doi.org/10.1055/s-0034-1396329DOI Listing
April 2015
8 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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http://dx.doi.org/10.1016/j.pcl.2014.11.005DOI Listing
April 2015
6 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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http://link.springer.com/10.1007/s00347-014-3060-x
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http://dx.doi.org/10.1007/s00347-014-3060-xDOI Listing
December 2014
9 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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http://link.springer.com/10.1007/s00347-014-3059-3
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http://dx.doi.org/10.1007/s00347-014-3059-3DOI Listing
December 2014
29 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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http://dx.doi.org/10.1038/nrendo.2014.83DOI Listing
August 2014
16 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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http://dx.doi.org/10.1097/PAP.0000000000000017DOI Listing
May 2014
29 Reads

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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http://dx.doi.org/10.1159/000356459DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3919491PMC
January 2014
5 Reads

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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http://dx.doi.org/10.1074/jbc.M113.530816DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3979414PMC
March 2014
6 Reads
7 Citations
4.573 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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http://dx.doi.org/10.1002/ajmg.a.36325DOI Listing
March 2014
32 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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http://dx.doi.org/10.1016/j.gene.2013.11.029DOI Listing
February 2014
55 Reads
11 Citations
2.140 Impact Factor