Project details

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Prevalence of X-linked hypophospatemic rickets (XLH) in the Netherlands and the relation between genotype and phenotype in children.

Keywords:
hypophospatemic rickets

Researchers:
dr. P. Rump
Dr. A.M. Boot

Nature of the research:
Observational study

Fields of study:
pediatrics genetics

Background / introduction
The prevalence if XLH has been described as 1/20.000, however there are no data for the Netherlands. The most common cause is a mutation in the PHEX gene The disease is X-linked with a dominance inheritance so both women and men are equally affected.
Research question / problem definition
What is the prevalence of XLH in the Netherlands?
The second target is evaluation of the genotype-phenotype relation in children
Workplan
Data will be obtained of the genetics department of Groningen and Utrecht. A data base of the patients with XLH will be made and clinical dat will be obtained from EPD.
References
3. Capelli S, Donghi V, Maruca K, Vezzoli G, Corbetta S, Brandi ML, Mora S, Weber G. Clinical and molecular heterogeneity in a large series of patients with hypophosphatemic rickets. Bone. 2015 Oct;79:143-9.
4. Durmaz E, Zou M, Al-Rijjal RA, Baitei EY, Hammami S, Bircan I, Akçurin S, Meyer B, Shi Y. Novel and de novo PHEX mutations in patients with hypophosphatemic rickets. Bone. 2013 Jan;52(1):286-91.
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