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A novel homozygous truncating mutation of the SFRP4 gene in Pyle's disease

A novel homozygous truncating mutation of the SFRP4 gene in Pyle's disease 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 http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Clinical Genetics Wiley

A novel homozygous truncating mutation of the SFRP4 gene in Pyle's disease

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Publisher
Wiley
Copyright
© 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd
ISSN
0009-9163
eISSN
1399-0004
DOI
10.1111/cge.12907
Publisher site
See Article on Publisher Site

Abstract

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

Journal

Clinical GeneticsWiley

Published: Jul 1, 2017

References