TY - JOUR
AU1 - Chatron, N.
AU2 - Lesca, G.
AU3 - Labalme, A.
AU4 - Rollat‐Farnier, P.A.
AU5 - Monin, P.
AU6 - Pichot, E.
AU7 - Edery, P.
AU8 - Sanlaville, D.
AU9 - Rossi, M.
AB - To the Editor:Pyle's disease (OMIM: %265900) is a rare autosomal recessive skeletal dysplasia, characterized by a massive expansion of metaphyseal trabecular bone with significant cortical thinning . These changes are particularly obvious in the distal part of the femora, showing an Erlenmeyer flask deformity. Mild cranial sclerosis and mild platyspondyly can also be observed . Clinical phenotype includes genu valgum of variable severity, metaphyseal fractures because of cortical thinning, and teeth problems (prolonged retention, delayed eruption, misalignment, caries) . The genetic cause of Pyle's disease has remained elusive until the very recent report of mutations in SFRP4 in four affected patients . We report here the molecular characterization by whole genome sequencing (WGS) of a two‐generation family harboring a novel SFRP4 mutation, confirming the causative role of this gene in Pyle's disease.Patient 1 (VI4, Fig. ) was born to Algerian healthy consanguineous parents. She presented at the age of 18 months with genu valgum. Her occipitofrontal circumference (OFC), length and weight were normal (respectively, 47 cm, 0 SD; 84 cm, +1.5 SD; 10.4 Kg, 0 SD). She had four normal teeth. Skeletal survey was consistent with Pyle's disease (Fig. ). Abdominal ultrasound scan, blood levels of calcium, phosphate, alkaline phosphatase, parathyroid hormone, and 
TI - A novel homozygous truncating mutation of the SFRP4 gene in Pyle's disease
JF - Clinical Genetics
DO - 10.1111/cge.12907
DA - 2017-07-01
UR - https://www.deepdyve.com/lp/wiley/a-novel-homozygous-truncating-mutation-of-the-sfrp4-gene-in-pyle-s-apoHn0I9I9
SP - 112
EP - 114
VL - 92
IS - 1
DP - DeepDyve