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Revista de Osteoporosis y Metabolismo Mineral

On-line version ISSN 2173-2345Print version ISSN 1889-836X


MARTINEZ-GIL, N; GRINBERG, D  and  BALCELLS, S. Search for variants of the LRP4 gene in women with high bone mass and in patients with Chiari type I malformation. Rev Osteoporos Metab Miner [online]. 2021, vol.13, n.1, pp.17-20.  Epub May 17, 2021. ISSN 2173-2345.


LRP4 is an essential facilitator in sclerostin-specific inhibition of the canonical Wnt pathway. Mutations in LRP4 have been associated with various conditions, including bone growth disease, sclerosteosis, and Chiari type I malformation (CMI).

Material and methods

The LRP4 has been re-sequenced in two patient cohorts with high bone mass phenotype (HBM) and with CMI aimed at finding causal variants.


Among the mutations found, we would highlight: 1) a missense mutation in a patient with CMI, which does not co-segregate with the phenotype in the family; 2) a previously undescribed intronic mutation (c.3364+16A>C) in a woman with HBM; and 3) an intronic mutation in a woman with HBM with a very low frequency in the European control population.


Although we have not found variants in LRP4 to explain the HBM or CMI phenotype in the patients studied, we encourage other researchers to analyze the LRP4 gene in their patients as it is a good functional candidate for both phenotypes.

Keywords : LRP4; HBM; Chiari malformation type I; bone mineral density; sclerostin.

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