Expanding the clinical spectrum of chromosome 15q26 terminal deletions associated with IGF-1 resistance
详细信息 查看全文
- 作者：Aisling M. O’Riordan ; Niamh McGrath ; Farhana Sharif…
- 关键词：15q26 deletion ; Aortic root ; Developmental delay ; Growth ; IGF ; 1 receptor
- 刊名：European Journal of Pediatrics
- 出版年：2017
- 出版时间：January 2017
- 年：2017
- 卷：176
- 期：1
- 页码：137-142
- 全文大小：
- 刊物主题：Pediatrics;
- 出版者：Springer Berlin Heidelberg
- ISSN：1432-1076
- 卷排序：176
文摘
Haploinsufficiency of the insulin-like growth factor-1 receptor (IGF1R) gene on chromosome 15q26.3 is associated with impaired prenatal and postnatal growth, developmental delay, dysmorphic features and skeletal abnormalities. Terminal deletions of chromosome 15q26 arising more proximally may also be associated with congenital heart disease, epilepsy, diaphragmatic hernia and renal anomalies. We report three additional cases of 15q26 terminal deletions with novel features which may further expand the spectrum of this rarely reported contiguous gene syndrome. Phenotypic features including neonatal lymphedema, aplasia cutis congenita and aortic root dilatation have not been reported previously. Similarly, laboratory features of insulin-like growth factor 1 (IGF-1) resistance are described, including markedly elevated IGF-1 of up to +4.7 SDS. In one patient, the elevated IGF-1 declined over time and this coincided with a period of spontaneous growth acceleration.