Sustained endocrine profiles of a girl with WAGR syndrome

BMC Medical Genetics

Case Report

Masayo Kagami¹  Chad A. Shaw²  Michiko Torio³  Yasunari Sakai³  Satoshi Akamine³  Masafumi Sanefuji³  Yuhki Koga³  Shouichi Ohga³  Yoshito Ishizaki³  Yui Takada³  Kazuhiro Ohkubo³  Yuki Matsushita⁴  Toshiro Hara⁵  Hiroyuki Torisu⁶ 

[1] Department of Molecular Endocrinology, National Research Institute for Child Health and Development, 157-8535, Tokyo, Japan;Department of Molecular and Human Genetics, Baylor College of Medicine, 77030, Houston, USA;Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 812-8582, Fukuoka, Japan;Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 812-8582, Fukuoka, Japan;Present address: Department of Pediatrics, National Hospital Organization Kyushu Medical Center, Fukuoka, Japan;Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 812-8582, Fukuoka, Japan;Present address: Fukuoka Children’s Hospital, 813-0017, Fukuoka, Japan;Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 812-8582, Fukuoka, Japan;Section of Pediatrics, Department of Medicine, Division of Oral & Medical Management, Fukuoka Dental College, 814-0193, Fukuoka, Japan;

关键词: Wilms tumor, Aniridia, Genitourinary anomalies and mental retardation (WAGR) syndrome;    Epigenetics;    Neuroendocrine function;    Methylation;   

DOI  :  10.1186/s12881-017-0477-5

 received in 2017-01-04, accepted in 2017-10-12,  发布年份 2017

来源: Springer

【 摘 要 】

BackgroundWilms tumor, aniridia, genitourinary anomalies and mental retardation (WAGR) syndrome is a rare genetic disorder caused by heterozygous deletions of WT1 and PAX6 at chromosome 11p13. Deletion of BDNF is known eto be associated with hyperphagia and obesity in both humans and animal models; however, neuroendocrine and epigenetic profiles of individuals with WAGR syndrome remain to be determined.Case presentationWe report a 5-year-old girl with the typical phenotype of WAGR syndrome. She showed profound delays in physical growth, motor and cognitive development without signs of obesity. Array comparative genome hybridization (CGH) revealed that she carried a 14.4 Mb deletion at 11p14.3p12, encompassing the WT1, PAX6 and BDNF genes. She experienced recurrent hypoglycemic episodes at 5 years of age. Insulin tolerance and hormonal loading tests showed normal hypothalamic responses to the hypoglycemic condition and other stimulations. Methylation analysis for freshly prepared DNA from peripheral lymphocytes using the pyro-sequencing-based system showed normal patterns of methylation at known imprinting control regions.ConclusionsChildren with WAGR syndrome may manifest profound delay in postnatal growth through unknown mechanisms. Epigenetic factors and growth-associated genes in WAGR syndrome remain to be characterized.

【 授权许可】

CC BY   
© The Author(s). 2017