A WAGR Syndrome Case with Postaxial Polydactyly

Yıl 2009, Cilt: 14 Sayı: 4, 283 - 286, 01.08.2009

Hatice Koçak Gülay Ceylaner

Öz

The WAGR contiguous gene deletion syndrome is a combination of Wilms tumor, Aniridia, Genito-urinary abnormalities, and growth and mental Retardation which is invariably associated with an 11p13 deletion. This deletion included the PAX6 and WT1 genes as previously reported in typical WAGR patients. Ocular defects result from hemizygosity for the PAX6 gene. Urogenital and renal abnormalities and predisposition to nephroblastoma are related to hemizygosity for the Wilms tumor suppressor gene WT1. We report an 8-year-old boy with WAGR syndrome and additional unusual clinical features. He had developmental delay, growth deficiency, severe ocular involvement, operated Wilms tumor and postaxial polydactyly. Cytogenetic and fluorescent in situ hybridization (FISH) analyses identified a deletion, del (11) (p11.2p13). Although the simultaneous appearance of WAGR and preaxial polydactyly has been already described, to our knowledge this is the first case in which the postaxial polydactyly is reported. The unusual anomalies described in this report may be another features of the WAGR syndrome and suggest the existence of a related gene in the WAGR critical region or in its proximity.

Anahtar Kelimeler

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Postaksiyel Polidaktilili WAGR Sendromu Vakası

Öz

WAGR bitişik gen delesyon sendromu; Wilms tümörü, aniridi, genitor-üriner anomaliler, büyüme geriliği ve mental geriliğin bir kombinasyonu olup, istisnasız 11p13 delesyonu ile ilişkilidir. Bu delesyon, tipik WAGR Sendromlu hastalarda daha once bildirildiği gibi PAX6 ve WT1 genlerini içerir. Oküler defektler PAX6 geninin hemizigozitesinden kaynaklanır. Ürogenital ve renal anomaliler ile nefroblastoma yatkınlık ise; Wilms Tümör baskılayıcı gen WT1'in hemizigozitesiyle ilişkilidir. WAGR Sendromuna ek olarak nadir klinik özellikleri olan 8 yaşında bir erkek hastayı sunuyoruz. Olguda büyüme ve gelişme geriliği, şiddetli oküler tutulum, opere Wilms Tümörü ve postaksiyel polidaktili mevcuttu. Sitogenetik ve Floresan İn Situ Hibridizasyon (FISH) analizleri ile bir delesyon tespit edildi: del (11) (p11.2p13). WAGR Sendromu ve preaksiyel polidaktili birlikteliği daha once tanımlanmış olmakla beraber, bugünkü bilgilerimize gore bu vaka; postaksiyel polidaktilinin bildirildiği ilk vakadır. Burada tanımlanan nadir anomaliler WAGR Sendromunun diğer özellikleri olup, WAGR kritik bölgesi veya daha proksimalinde ilişkili bir genin varlığını gösterebilir.

Anahtar Kelimeler

Seminal vezikül, agenez, anomali, infertilite

Kaynakça

• Miller RW, Fraumeni Jr JF, Manning MD. Association of Wilms’s tumor with aniridia, hemihypertrophy and other con- genital malformations. N Engl J Med 1964; 270: 922- 927.
• Brémond-Gignac D, Gérard-Blanluet M, Copin H, et al. Three patients with hallucal polydactyly and WAGR syndrome, includ- ing discordant expression of Wilms tumor in MZ twins. Am J Med Genet A 2005; 134:422-425.
• Brémond-Gignac D, Crolla JA, Copin H, et al. Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion. Eur J Hum Genet 2005; 13:409-413.
• Manoukian S, Crolla JA, Mammoliti PM, et al. Bilateral preaxial polydactyly in a WAGR syndrome patient. Am J Med Genet A 2005; 134:426-429.
• Ton CC, Hirvonen H, Miwa H, et al. Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region. Cell 1991; 67:1059-1074.
• Fischbach BV, Trout KL, Lewis J, Sika M. WAGR Syndrome: A Clinical Review of 54 Cases. Pediatrics 2005; 116:984-988.
• Crolla JA, van Heyningen V. Frequent chromosome aberrations revealed bymolecular cytogenetic studies in patients with aniridia. Am J Hum Genet 2002; 71:1138-1149.
• Marlin S, Couet D, Lacombe D, Cessans C, Bonneau D. Obe- sity: a new feature of WAGR (del 11p) syndrome. Clin Dysmor- phol 1994; 3:255-257.
• Huff V. Parental origin of WT1 mutations and mental retardation in WAGR syndrome. Nat Genet 1994; 8:13-14.
• Turleau C, de Grouchy J, Nihoul-Fekete C, et al. Del11p13 /nephroblastoma without aniridia. Hum Genet 1984; 67:455-456.
• Talamillo A, Quinn JC, Collinson JM, et al. PAX6 regulates regional development and neuronal migration in the cerebral cor- tex. Dev Biol 2003; 255:151-163.
• Yasuda T, Kajimoto Y, Fujitani Y, et al. PAX 6 mutation as a genetic factor common to aniridia and glucose intolerance. Dia- betes 2002; 51:224-230.
• Muto R, Yamamori S, Ohashi H, Osawa M. Prediction by FISH analysis of the occurrence of Wilms’ tumor in aniridia patients. Am J Med Genet 2002; 108:285-289.
• Kabul Tarihi:23.04.2009