Rare syndromic craniosynostosis or isolated multisuture synostosis

Gene: LRP5

I don't know

A214T reported in one extended family with AD osteosclerosis - 4FMs reported with CSS, others have macrocephaly/brachycephaly. Other variants not associated with CSS? ; Review on behalf of Tracy Lester and Andrew Wilkie

Created: 5 Mar 2019, 11:33 a.m.

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: LRP5; Suggested initial gene rating: amber

Created: 5 Mar 2019, 11:21 a.m.

Red List (low evidence)

p.Ala214Thr segregating in one family with osteosclerosis. Mutation is gain of function. Several other heterozygous mutations in LRP5 are associated with osteosclerosis without craniosynostosis, and recessive mutations cause osteoporosis-pseudoglioma syndrome and exudative vitreoretinopathy. Only the specific A214T or other osteosclerosis-related mutation should be considered causative.

Created: 15 Sep 2015, 7:17 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
osteosclerosis

Publications

• 15940380

Mode of pathogenicity
Other