Height assessments in children with neurofibromatosis type 1
Elizabeth A Soucy1, Dorothy van Oppen, Nicole L Nejedly
1Department of Neurology, Washington University School of Medicine, St Louis, MO, USA.
Insights
Children with neurofibromatosis type 1 (NF1) exhibit distinct growth patterns. A germline NF1 gene mutation significantly impacts stature, especially when inherited from one parent, affecting height z scores compared to the general population and siblings.
Area of Science:
- Genetics
- Pediatrics
- Endocrinology
Background:
- Previous studies suggest children with neurofibromatosis type 1 (NF1) are shorter.
- Prior research did not account for confounding factors influencing short stature.
Purpose of the Study:
- To investigate the specific genetic influence of NF1 on child growth.
- To differentiate NF1's effect on stature from other potential causes.
Main Methods:
- Collected height data from 170 children with NF1.
- Obtained parental height data from 61 patients to calculate mid-parental target heights.
- Analyzed height z scores in relation to population means, parental NF1 status, and unaffected siblings.
Main Results:
- Children with NF1 showed statistically different height and mid-parental height z scores compared to the general population.
- The difference in height z scores was more pronounced when neither parent had NF1.
- Height z scores for children with NF1 were significantly different from their unaffected siblings.
Conclusions:
- A germline NF1 gene mutation has a clear and measurable effect on the stature of children with NF1.
- The genetic influence of NF1 on growth is evident when comparing affected children to the general population and siblings.
- Parental NF1 status may modulate the impact of the mutation on a child's height.
Abstract:
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.
