Soucy Elizabeth A, van Oppen Dorothy, Nejedly Nicole L, Gao Feng, Gutmann David H, Hollander Abby S
Department of Neurology, Washington University School of Medicine, St Louis, MO, USA.
J Child Neurol. 2013 Mar;28(3):303-7. doi: 10.1177/0883073812446310. Epub 2012 Jun 29.
Previous studies have suggested that children with neurofibromatosis type 1 (NF1) are shorter than their unaffected counterparts. Unfortunately, these reports did not consider other contributing factors that might also influence short stature. The purpose of the current study was to characterize the genetic influence of NF1 on the growth of children. Height data were measured and recorded for 170 patients, whereas parental measurements were obtained for 61 patients to calculate sex-corrected mid-parental target heights. Children with NF1 had population mean height and mid-parental height z scores statistically different from the general population. Importantly, these differences were pronounced when neither parent had NF1 but were not significant when one of the parents had NF1. Moreover, height z scores for children with NF1 were also statistically different than their unaffected siblings. Collectively, these data establish a clear effect of a germline NF1 gene mutation on stature in children with NF1.
以往的研究表明，1型神经纤维瘤病（NF1）患儿比未患病的同龄人身材更矮小。遗憾的是，这些报告没有考虑其他可能也会影响身材矮小的因素。本研究的目的是明确NF1对儿童生长发育的遗传影响。对170例患者的身高数据进行了测量和记录，同时获取了61例患者父母的身高数据，以计算性别校正后的父母平均身高目标值。NF1患儿的总体平均身高和父母平均身高z评分与普通人群在统计学上存在差异。重要的是，当父母双方均无NF1时，这些差异较为显著，但当父母一方患有NF1时则不显著。此外，NF1患儿的身高z评分与其未患病的兄弟姐妹在统计学上也存在差异。总体而言，这些数据证实了种系NF1基因突变对NF1患儿身高有明确影响。
