A WAGR syndrome case with postaxial polydactyly

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.

Postaksiyel polidaktilili WAGR sendromu vakası

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.

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