Pycnodysostosis caused by CTSK mutation:one pedigree study / 中华内分泌代谢杂志

ABSTRACT

The purpose of this study was to analyze the clinical characteristics of a patient with pycnodysostosis caused by cathepsin K ( CTSK ) gene mutation and his family members in order to improve the understanding of this rare diseases. A pediatric patient with pycnodysostosis was referred to us when he was eight years old. He presented with elevated bone mineral density, short stature, dentition abnormality and multiple fractures of right tibia. Next generation sequencing ( NGS) and Sanger sequencing confirmed that the proband carried carrying compound heterozygous mutations of cathepsin K(CTSK) gene, including a missense mutation c.440C>T in exon 5 (p.Ala147Val) and a deletion mutation c. 778delA in exon 6 ( p. Ser260AlafsX15) which was inherited from his father. His mother and sister did not carry the above variations. Clinically, it is necessary to differentiate pycnodysostosis from osteopetrosis and other osteosclerotic diseases.