1/6. obesity and wagr syndrome.We describe a 15-year-old boy with wagr syndrome and obesity and suggest that obesity should be added to the WAGR spectrum. It is also suggested that a putative gene for obesity might be located within the 11p13 band.- - - - - - - - - - ranking = 1keywords = obesity (Clic here for more details about this article) |
2/6. Morbid obesity and hyperphagia in the wagr syndrome.A 33-year-old man with wagr syndrome is described with morbid obesity associated with hyperphagia and an apparent lack of satiety. It is possible that a gene associated with satiety is present at 11p13 although it is premature to conclude that obesity is a specific feature of wagr syndrome.- - - - - - - - - - ranking = 2keywords = obesity (Clic here for more details about this article) |
3/6. Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion.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.- - - - - - - - - - ranking = 0.66666666666667keywords = obesity (Clic here for more details about this article) |
4/6. Clinical, cytogenetic and molecular characterization of a patient with combined succinic semialdehyde dehydrogenase deficiency and incomplete wagr syndrome with obesity.We describe the clinical course, as well as cytogenetic and molecular findings, of a 3-year-old obese boy with psychomotor retardation who exhibited two rare conditions: succinic semialdehyde dehydrogenase deficiency (SSADH deficiency, MIM 271980), a disorder of gamma-aminobutyric acid metabolism with a heterogeneous clinical spectrum, and partial Wilms' tumor, aniridia, genital abnormalities, and mental retardation (WAGR) syndrome, an association between Wilms' tumor, aniridia, genitourinary malformations, and mental retardation due to mutations involving the short arm of chromosome 11, particularly deletions at the chromosomal region 11p13 (MIM 194072). diagnosis of SSADH deficiency in our patient was established by demonstration of absent enzyme activity in isolated leucocytes, and was associated with a novel missense mutation (c.587G>A; p.Gly196Asp) in the SSADH coding sequence. We further confirmed an incomplete wagr syndrome in this boy [karyotype 46, XY, del (11) (p13p14.2)] with a normal WT1 (Wilms' tumor) gene and an absence of pathology in the genitourinary tract, but with obesity (wagr syndrome with obesity, WAGRO syndrome). The patient also exhibited distinctive cerebral anomalies such as increased signals of the globi pallidi, internal hydrocephalus and cerebellar vermian atrophy. However, treatment options for this patient are limited, including supportive treatment, physiotherapy, special educational training, and vigabatrin. In summary, we report the first patient with the exceptional rare findings of both SSADH deficiency and partial WAGR/WAGRO syndrome.- - - - - - - - - - ranking = 2keywords = obesity (Clic here for more details about this article) |
5/6. WAGR(O?) syndrome and congenital ptosis caused by an unbalanced t(11;15)(p13;p11.2)dn demonstrating a 7 megabase deletion by FISH.aniridia usually occurs in isolation, but may also occur as part of the WAGR contiguous gene deletion syndrome, which includes wilms tumor, aniridia, genitourinary abnormalities, and mental retardation. The aniridia and predisposition for wilms tumor seen in WAGR are caused by haploinsufficiency for PAX 6 and WT1, respectively. We present a female infant with aniridia, bilateral ptosis, bilateral posterior capsular cataracts, nystagmus, left-sided glaucoma, microcephaly, mild unilateral hydronephrosis, poor linear growth, and gross motor delay consistent with a clinical diagnosis of wagr syndrome. In addition, weight-for-height ratio at 12 months is at the 94th centile, raising the possibility of a diagnosis of WAGRO (WAGR obesity). Chromosome analysis revealed a translocation (11;15)(p13;p11.2) which has not been previously associated with a diagnosis of WAGR. Subsequent clinical WAGR fluorescent in situ hybridization (FISH) analysis demonstrated a deletion of 11p13 including PAX6 and WT1. A complete FISH-mapping of the breakpoints on chromosome 11 revealed a 7 Mb deletion within 11p13-11p14. The patient is examined in light of other reported patients with deletions and/or translocations involving the regions between 11p12 --> 11p14 including patients with WAGR obesity (WAGRO) as well as with other reported patients with aniridia and congenital ptosis.- - - - - - - - - - ranking = 0.33333333333333keywords = obesity (Clic here for more details about this article) |
6/6. obesity: a new feature of WAGR (del 11p) syndrome.A 6-year-old girl with del(11)(p14p12) is reported. This girl has the multiple congenital anomalies that defines the wagr syndrome (aniridia, external genital hypoplasia and severe mental retardation). She has, in addition, very severe obesity ( 10 SD) which is not a feature usually described with WAGR association.- - - - - - - - - - ranking = 0.33333333333333keywords = obesity (Clic here for more details about this article) |