А clinical case of WAGRO syndrome

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WAGRO syndrome is a rare genetic syndrome that includes Wilms’ tumor, aniridia, genitourinary system abnormalities, mental retardation, and obesity. The syndrome is associated with deletions of the short arm of chromosome 11 (11p), where the PAX6 and WT1 genes are located. We present the clinical case of a 7-year-old boy with aniridia, polar cataract, and concomitant neuromotor, psychomotor, and speech delays. Evaluation of the child’s karyotype followed by confirmation using multiplex ligation-dependent probe amplification showed the presence of a deletion including in the 11p13-p14 region.

作者简介

Natella Sukhanova

Federal State Budgetary Institution of Health’s Central Clinical Hospital of the Russian Academy of Sciences

编辑信件的主要联系方式.
Email: natelasukhanova@gmail.com
ORCID iD: 0000-0003-4371-775X

MD

俄罗斯联邦, 117593, Moscow, Russian Federation

Ludmila Katargina

Helmholtz National Medical Сenter of Eye Diseases

Email: info@igb.ru
ORCID iD: 0000-0002-4857-0374

MD, PhD, Professor

俄罗斯联邦, 105062, Moscow, Russian Federation

Rena Zinchenko

Research Centre for Medical Genetics

Email: renazinchenko@mail.ru
ORCID iD: 0000-0003-3586-3458

MD, PhD, Professor

俄罗斯联邦, 115478, Moscow, Russian Federation

Andrey Marakhonov

Research Centre for Medical Genetics

Email: marakhonov@gmail.com
ORCID iD: 0000-0002-0972-5118

PhD

俄罗斯联邦, 115478, Moscow, Russian Federation

Tatjana Vasilieva

Research Centre for Medical Genetics; N.A. Semashko National Research Institute of Public Health

Email: vasilyeva_debrie@mail.ru
ORCID iD: 0000-0002-1503-134X

научный сотрудник

俄罗斯联邦, 115478, Moscow, Russian Federation; 105064, Moscow, Russian Federation

参考

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  2. Hingorani M, Hanson I, van Heyningen V. Aniridia. Eur. J. Hum. Genet. 2012;20(10):1011-7. doi: 10.1038/ejhg.2012.100.
  3. Gronskov K, Olsen JH, Sand A, et al. Population-based risk estimates of Wilms tumor in sporadic aniridia. A comprehensive mutation screening procedure of PAX6 identifies 80% of mutations in aniridia. Hum. Genet. 2001;109(1):11-8. doi: 10.1007/s004390100529.
  4. Hingorani M, Williamson KA, Moore AT, van Heyningen V. Detailed ophthalmologic evaluation of 43 individuals with PAX6 mutations. Invest. Ophthalmol. Vis. Sci. 2009;50(6):2581-90. doi: 10.1167/iovs.08-2827.
  5. McCulley TJ, Mayer K, Dahr SS, et al. Aniridia and optic nerve hypoplasia. Eye (Lond.). 2005;19(7):762-4. doi: 10.1038/sj.eye.6701642.
  6. Fischbach BV, Trout KL, Lewis J, et al. WAGR syndrome: a clinical review of 54 cases. Pediatrics. 2005;116(4):984-8. doi: 10.1542/peds.2004-0467.
  7. Han JC, Thurm A, Williams C, et al. Association of brain-derived neurotrophic factor (BDNF) haploinsufficiency with lower adaptive behaviour and reduced cognitive functioning in WAGR/11p13 deletion syndrome. Cortex. 2013;49(10):2700-10. doi: 10.1016/j.cortex.2013.02.009.
  8. Han JC, Liu QR, Jones M, et al. Brain-derived neurotrophic factor and obesity in the WAGR syndrome. N. Engl. J. Med. 2008;359(9):918-27. doi: 10.1056/NEJMoa0801119.
  9. Robinson DO, Howarth RJ, Williamson KA, et al. Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia. Am. J. Med. Genet. A. 2008;146A(5):558-69. doi: 10.1002/ajmg.a.32209.
  10. Shinawi M, Sahoo T, Maranda B, et al. 11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity. Am. J. Med. Genet. A. 2011;155A(6):1272-80. doi: 10.1002/ajmg.a.33878.
  11. Vasilieva TA, Voskresenskaya AA, Khlebnikova OV, et al. Differential diagnosis of hereditary forms of congenital aniridia from the perspective of modern genetics. Vestnik Rossiiskoi akademii meditsinskikh nauk. 2017;72(4):233-41. (In Russ.) doi: 10.15690/vramn 834.
  12. Marakhonov AV, Vasilyeva TA, Kutsev SI, et al. Method of Differential and Confirmatory Molecular Genetic Diagnostics of Congenital Aniridia and WAGR Syndromе. Patent RF 2641254 C1; 2018. (In Russ.)
  13. Marakhonov AV, Vasilyeva TA, Voskresenskaya AA, et al. LMO2 gene deletions significantly worsen the prognosis of Wilms’ tumor development in patients with WAGR syndrome. Hum. Mol. Genet. 2019;28(19):3323-6. doi: 10.1093/hmg/ddz168.

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2. Fig. 1А. A corneal pannus (thin strip without vascularisation), polar cataract

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3. Fig. 1B. Hypoplasia of the optic disc and central nervous system the fovea of the retina

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4. Fig. 2. MLPA analysis of the DNA of a patient with WAGRO syndrome, demonstrating the presence of a heterozygous deletion of at least 7.5 million bp spanning the 11p13-p14 region

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