Narrowing of the responsible region for severe developmental delay and autistic behaviors in WAGR syndrome down to 1.6â€‰Mb including PAX6, WT1, and PRRG4.

[aniridia]

Interstitial deletions of the 11 p 13 region are known to cause WAGR (Wilms tumor , aniridia , genitourinary malformation , and "mental retardation ") syndrome , a contiguous gene deletion syndrome due to haploinsufficiencies of the genes in this region , including WT 1 and PAX 6 . Developmental delay and autistic features are major complications of this syndrome . Previously , some genes located in this region have been suggested as responsible for autistic features . In this study , we identified two patients who showed the chromosomal deletions involving 11 p 13 . Patient 1 , having an 8 .6 â€‰Mb deletion of chr 11 p 14 .1 p 12 :29 ,676 ,434 -38 ,237 ,948 , exhibited a phenotype typical of WAGR syndrome and had severe developmental delay and autistic behaviors . On the other hand , Patient 2 had a larger aberration region in 11 p 14 .1 -p 12 which was split into two regions , that is , a 2 .2 -Mb region of chr 11 p 14 .1 : 29 ,195 ,161 -31 ,349 ,732 and a 10 .5 -Mb region of chr 11 p 13 p 12 : 32 ,990 ,627 -43 ,492 ,580 . As a consequence , 1 .6 â€‰Mb region of the WAGR syndrome critical region was intact between the two deletions . This patient showed no symptom of WAGR syndrome and no autistic behaviors . Therefore , the region responsible for severe developmental delay and autistic features on WAGR syndrome can be narrowed down to the region remaining intact in Patient 2 . Thus , the unique genotype identified in this study suggested that haploinsufficiencies of PAX 6 or PRRG 4 included in this region are candidate genes for severe developmental delay and autistic features characteristic of WAGR syndrome .

Diseases
Validation

Diseases presenting "aniridia" symptom

aniridia

kabuki syndrome

oculocutaneous albinism

This symptom has already been validated