DENYS–DRASH SYNDROME, FRASIER SYNDROME, AND WAGR SYNDROME (<i>WT1</i>‐RELATED DISORDERS)

Turner, Joyce; Dome, Jeffrey S.

doi:10.1002/9781119432692.ch23

Cited by 3 publications

(2 citation statements)

References 96 publications

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“…1 Collectively, these are now referred to as WT1 -related disorders. 2 A second WT locus at chromosome 11p15 was inferred from the observation of sporadic WT with loss of heterozygosity at 11p15 rather than 11p13. 11p15 is also linked to Beckwith-Wiedemann syndrome (BWS), an overgrowth syndrome characterized by macroglossia, lateralized overgrowth (also called hemihypertrophy or hemihyperplasia), exomphalos/omphalocele, hyperinsulinemia, and predisposition to WT and other solid tumors of childhood.…”

Section: Clinical Challenges In Evaluation and Treatmentmentioning

confidence: 99%

Revisiting the Threshold for Cancer Genetics Referral in Patients With Wilms Tumor

Turner

Hill

Dome

2022

JCO

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The Oncology Grand Rounds series is designed to place original reports published in the Journal into clinical context. A case presentation is followed by a description of diagnostic and management challenges, a review of the relevant literature, and a summary of the authors' suggested management approaches. The goal of this series is to help readers better understand how to apply the results of key studies, including those published in the Journal of Clinical Oncology , to patients seen in their own clinical practice.

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Section: Clinical Challenges In Evaluation and Treatmentmentioning

confidence: 99%

Revisiting the Threshold for Cancer Genetics Referral in Patients With Wilms Tumor

Turner

Hill

Dome

2022

JCO

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“…Wilms' tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR; OMIM#194072) syndrome is a contiguous gene deletion syndrome caused by a de novo deletion including the 11p13 region [1,2]. Autism spectrum disorder (ASD) is a behaviorally defined neurodevelopmental syndrome associated with various genetic and non-genetic causes [3] that is frequently observed in individuals with WAGR syndrome at a reported incidence of 20-52%, which is markedly higher than in the general population (1-4%) [1,[4][5][6].…”

Section: Introductionmentioning

confidence: 99%

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

Nishizawa

Motobayashi

Akahane

et al. 2022

Brain and Development

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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.Case presentation: The patient is presently a 6-year-old boy. Microarray analysis revealed a 7.1 Mb loss at 11p14.3-p13 and a 9.3 Mb loss at 11p13-p12, which encompassed the PAX6, WT1, and PRRG4 genes. His behavioral features were characteristic even among the ASD population: severe hypoesthesia to touch, pain, and temperature in addition to remarkable sensory seeking posing a high risk of serious accident. Sensory Profile analysis objectively identified a strong preference for sensory stimulation. Furthermore, his somatosensory evoked potential (SSEP) showed a mild delay in central conduction time, suggesting partial brain stem dysfunction-induced hypoalgesia.

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Predisposing Genetic Variants and Potent Genetic Mutations in Cancer

Kebudi

Yıldırım

Bouffet

2022

Pediatric Surgical Oncology

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DENYS–DRASH SYNDROME, FRASIER SYNDROME, AND WAGR SYNDROME (WT1‐RELATED DISORDERS)

Cited by 3 publications

References 96 publications

Revisiting the Threshold for Cancer Genetics Referral in Patients With Wilms Tumor

Revisiting the Threshold for Cancer Genetics Referral in Patients With Wilms Tumor

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

Predisposing Genetic Variants and Potent Genetic Mutations in Cancer

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