TY - JOUR
T1 - A novel sequence variant in SFRP4 causing Pyle disease
AU - Galada, Chelna
AU - Shah, Hitesh
AU - Shukla, Anju
AU - Girisha, Katta M.
PY - 2017/4/1
Y1 - 2017/4/1
N2 - 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.
AB - 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.
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U2 - 10.1038/jhg.2016.166
DO - 10.1038/jhg.2016.166
M3 - Article
AN - SCOPUS:85018754010
SN - 1434-5161
VL - 62
SP - 575
EP - 576
JO - Jinrui idengaku zasshi. The Japanese journal of human genetics
JF - Jinrui idengaku zasshi. The Japanese journal of human genetics
IS - 5
ER -