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

American Journal of Medical Genetics. Part a
Toshiyuki YamamotoNobuhiko Okamoto

Abstract

Interstitial deletions of the 11p13 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 WT1 and PAX6. 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 11p13. Patient 1, having an 8.6 Mb deletion of chr11p14.1p12:29,676,434-38,237,948, 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 11p14.1-p12 which was split into two regions, that is, a 2.2-Mb region of chr11p14.1: 29,195,161-31,349,732 and a 10.5-Mb region of chr11p13p12: 32,990,627-43,492,580. As a consequence, 1.6 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 ...Continue Reading

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Citations

Nov 26, 2015·Case Reports in Obstetrics and Gynecology·Berrin TezcanAmarnath Bhide
Oct 25, 2017·BMC Medical Genetics·Yui TakadaShouichi Ohga
Sep 20, 2020·Toxicology in Vitro : an International Journal Published in Association with BIBRA·Shotaro KamataIsao Ishii
Jul 11, 2021·Archivos de la Sociedad Española de Oftalmología·F Blanco-KellyM Cortón

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