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.183C>G (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.
journal_name
J Hum Genetjournal_title
Journal of human geneticsauthors
Galada C,Shah H,Shukla A,Girisha KMdoi
10.1038/jhg.2016.166subject
Has Abstractpub_date
2017-04-01 00:00:00pages
575-576issue
5eissn
1434-5161issn
1435-232Xpii
jhg2016166journal_volume
62pub_type
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