Additional file 1 of Surgical or non-surgical treatment of plantar fasciopathy (SOFT): study protocol for a randomized controlled trial

Additional file 1. Standard Protocol Items: Recommendations for Interventional Trials (SPIRIT) statement

The pedigree included in the current study.

<p>Affected individuals are indicated in black, unaffected in white. An obligate carrier of the chromosome 1 putative scoliosis risk haplotype (denoted by blue bars) is marked with a black dot. All numbered individuals have been genotyped and included in the linkage analysis. All putative non-risk haplotypes are denoted by white bars. The two exome-sequenced individuals are marked with asterisks. Carriers of the rare <i>CELSR2</i> variant identified by exome sequencing are marked by a green box.</p

Visualisation of the predicted structure of the GAIN domain of <i>CELSR2</i>.

<p>The left panel shows the wildtype 2287V form, the right panel shows the mutated 2287I form. The location of the V2287I and R2060R variants are shown, as well as the site of autoproteolytic cleavage.</p

Genetic linkage peak on chromosome 1, indicating sharing in all affected individuals.

<p>The maximum K&C non-parametric LOD (NPL) score was attained through the exponential model. The x-axis shows the position on the chromosome (in cM), the y-axis shows the NPL score.</p

Schematic of the structure of the <i>CELSR2</i> protein.

<p>Shown are the cadherin, EGF-like, and laminin-G-like domains. Also the transmembrane (TM) 7-pass domain and the evolutionarily conserved GAIN domain. The GAIN domain contains within it a GPS domain and is the site of autoproteolytic cleavage of <i>CELSR2</i>. The rare V2287I variant and more common R2060R tagging variant are both located within the GAIN domain.</p

Association of tagging variants in <i>CELSR1</i>, <i>2</i> and <i>3</i> to idiopathic scoliosis in a set of Swedish cases and controls.

<p>Association of tagging variants in <i>CELSR1</i>, <i>2</i> and <i>3</i> to idiopathic scoliosis in a set of Swedish cases and controls.</p