Skeletal dysplasia
Gene: SFRP4
Pyle disease is characterized by long bones with wide and expanded trabecular metaphyses, thin cortical bone, and bone fragility. >3 cases reported; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pyle disease 265900; PYL; Metaphyseal dysplasia
Publications
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: SFRP4; Initial rating suggestion: green if SDCreated: 6 Mar 2019, 11:37 a.m.
Comment on list classification: Additional case reported in PMID 28100910, and internal clinical review confirmed that this gene should be promoted to green.Created: 6 Apr 2018, 2:10 p.m.
Comment on publications: Other publications contribute evidence towards the role of this gene in bone density, skeletal development and the Wnt signalling pathway.Created: 6 Apr 2018, 12:35 p.m.
PMID:27355534 - A brother and sister with Pyle disease were homozygous for a frameshift variant in this gene, with unaffected parents and brother heterozygous. An additional two unrelated cases with loss of function variants are reported, however without evidence of segregation. These variants were identified with a variant filtering pipeline for rare variants. Features similar to Pyle disease were observed in knockout mice. Treatment of Sfrp4-deficient mice with a soluble Bmp2 receptor (RAP-661) or with antibodies to sclerostin corrected the cortical-bone defect.Created: 6 Apr 2018, 12:16 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pyle disease 265900
Publications
Added phenotypes PYL; Metaphyseal dysplasia; Pyle disease 265900 for gene: SFRP4 Publications for gene SFRP4 were changed from 27355534; 28100910; 27117872; 24096177; 26273529; 22965941; 22387305; 20174869; 27117872 to 27355534; 26273529; 20174869; 27117872; 22965941; 28100910; 24096177; 22387305
Source NHS GMS was added to SFRP4. Rating Changed from Green List (high evidence) to Green List (high evidence)
Phenotypes for SFRP4 were set to Pyle disease 265900; PYL; Metaphyseal dysplasia
This gene has been classified as Green List (High Evidence).
Publications for SFRP4 were set to 27355534; 28100910; 27117872; 24096177; 26273529; 22965941; 22387305; 20174869; 27117872
Publications for SFRP4 were set to 27355534; 27117872; 24096177; 26273529; 22965941; 22387305; 20174869; 27117872
Publications for SFRP4 were set to 27355534; 27117872; 24096177; 26273529; 22965941; 22387305; 20174869
This gene has been classified as Amber List (Moderate Evidence).
SFRP4 was added to Unexplained skeletal dysplasia panel. Sources: Literature
SFRP4 was created by Ellen McDonagh