Article

Combination of WAGR and Potocki–Shaffer contiguous deletion syndromes in a patient with an 11p11.2–p14 deletion

Department of Ophthalmology, Robert Debré Hospital, AP-HP, Paris, France.
European Journal of HumanGenetics (Impact Factor: 4.23). 05/2005; 13(4):409-13. DOI: 10.1038/sj.ejhg.5201358
Source: PubMed

ABSTRACT Aniridia, Wilms tumor, genitourinary abnormalities, growth and mental retardation are the cardinal features of the WAGR 11p13 deletion syndrome. The Potocki-Schaffer syndrome or proximal 11p deletion syndrome (previously DEFECT11 syndrome) is a contiguous gene syndrome associated with deletions in 11p11.2, principal features of which are multiple exostoses and enlarged parietal foramina. Mental handicap, facial dysmorphism and craniosynostosis may also be associated. We report a patient with combined WAGR and Potocki-Shaffer syndromes, and obesity. She presented with aniridia, cataract, nystagmus, corneal ulcers and bilateral congenital ptosis. A left nephroblastoma was detected at 15 months. Other features included moderate developmental delay, growth deficiency, facial dysmorphism, multiple exostoses and cranial lacunae. High-resolution and molecular cytogenetics confirmed a del(11)(p11.2p14.1) deletion with a proximal breakpoint between the cosmid DO8153 and the BAC RP11-104M24 to a distal breakpoint between cosmids CO8160 (D11S151) and F1238 (D11S1446). The deletion therefore includes EXT2, ALX4, WT1 and PAX6. This case appears to be the second patient reported with this combined deletion syndrome and confirms the association of obesity in the WAGR spectrum, a feature previously reported in four cases, and for which the acronym WAGRO has been suggested. Molecular and follow-up data on the original WAGRO case are briefly presented.

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Available from: Dominique Bremond-Gignac, Mar 04, 2014
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    • "However, the genotype-phenotype correlation was clear enough for the diagnosis of PSS. So far, 46 patients from 31 families affected by PSS have been described [Francke et al., 1977; Gustavson et al., 1984; Lorenz et al., 1990; Shaffer et al., 1993; McGaughran et al., 1995; Bartsch et al., 1996; Potocki and Shaffer, 1996; Wuyts et al., 1999, 2004; Hall et al., 2001; Yamamoto et al., 2001; Chien et al., 2003; Brémond-Gignac et al., 2005; Chuang et al., 2005; Wakui et al., 2005; Romeike and Wuyts, 2007; Almind et al., 2009; Swarr et al., 2010]. The clinical phenotype of PSS is extremely heterogeneous, from normal development and intelligence to severe developmental delay and other abnormalities, including WAGR syndrome, due to the size of the deletion. "
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    ABSTRACT: We describe the case of an adult patient affected by multiple exostoses, severe mental retardation, epilepsy and facial dysmorphisms with a deletion of ∼2.3 Mb on chromosome 11p11.21, correlated to Potocki-Shaffer syndrome (PSS). PSS is a rare contiguous gene deletion syndrome, mainly characterized by multiple exostoses and bilateral parietal foramina. Mental retardation and craniofacial dysmorphisms have often been reported, too. Although the patient showed many signs of PSS since early childhood, the diagnosis was suggested only when we examined her at adult age. This case highlights how frequently rare diseases remain undiagnosed till adulthood and is an excellent example of the need for a timely and correct diagnosis.
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    • "This patient exhibited features of both WAGR as well as PSS; developmental delay but no seizures. Bremond-Gignac et al described a further case with 11p deletion encompassing EXT2, ALX4, WT1 and PAX6 genes showing features of both WAGR and PSS [15]. In addition, the patient showed obesity. "
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