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A novel sequence variant in SFRP4 causing pyle disease

Galada, Chelna and Shah, Hitesh and Shukla, Anju and Girisha, KM (2017) A novel sequence variant in SFRP4 causing pyle disease. Journal of Human Genetics, 62 (5). pp. 575-576. ISSN 1434-5161

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Abstract

Pyle disease (PYL) is an extremely rare disorder of irregular development of long bone. Recently, homozygous mutations in secreted frizzled-related protein 4 gene (SFRP4) gene were found to underlie this condition. Sequencing of coding regions of SFRP4 gene from an 11-year-old female with PYL was performed. A novel homozygous nonsense variant, c.183C4G (p.Y61*) was observed. Segregation analysis in the patient revealed a germline mutation, resulting in reduced protein formation. This is the second report from a fourth affected family with a SFRP4 mutation causing PYL disease.

Item Type: Article
Subjects: Medicine > KMC Manipal > Orthopaedics
Medicine > KMC Manipal > Paediatrics
Depositing User: KMC Library
Date Deposited: 02 May 2017 11:01
Last Modified: 02 May 2017 11:01
URI: http://eprints.manipal.edu/id/eprint/148779

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